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Cardio-facio-cutaneous syndrome(CFC1)

MedGen UID:
266149
Concept ID:
C1275081
Congenital Abnormality
Synonyms: BRAF-Related Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous Syndrome; CARDIOFACIOCUTANEOUS SYNDROME 1; CFC syndrome; CFC1; CFCS; Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure; KRAS-Related Cardiofaciocutaneous Syndrome; MAP2K1-Related Cardiofaciocutaneous Syndrome; MAP2K2-Related Cardiofaciocutaneous Syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Cardio-facio-cutaneous syndrome (403770008)
 
Gene: BRAF
Cytogenetic location: 7q34
OMIM®: 115150
Orphanet: ORPHA1340

Disease characteristics

Excerpted from the GeneReview: Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia (ALL), has been reported in some individuals.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Katherine A Rauen   view full author information

Additional descriptions

From OMIM
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). The heart defects include pulmonic stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Some patients have ectodermal abnormalities such as sparse and friable hair, hyperkeratotic skin lesions, and a generalized ichthyosis-like condition. Typical facial characteristics include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Most cases occur sporadically, but autosomal dominant transmission has been rarely reported (Linden and Price, 2011). Roberts et al. (2006) provided a detailed review of CFC syndrome, including a discussion of the phenotypic overlap of CFC syndrome with Noonan syndrome (NS1; 163950) and Costello syndrome (218040). Genetic Heterogeneity of Cardiofaciocutaneous Syndrome Other forms of cardiofaciocutaneous syndrome include CFC2 (615278), caused by mutation in the KRAS gene (190070); CFC3 (615279), caused by mutation in the MAP2K1 gene (176872); and CFC4 (615280), caused by mutation in the MAP2K2 gene (601263). The protein products of these causative genes, including BRAF, interact in a common RAS/ERK (see 601795) pathway that regulates cell differentiation, proliferation, and apoptosis (summary by Roberts et al., 2006).  http://www.omim.org/entry/115150
From GHR
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart problems most commonly associated with this condition include malformations of one of the heart valves that impairs blood flow from the heart to the lungs (pulmonic stenosis), a hole between the two upper chambers of the heart (atrial septal defect), and a form of heart disease that enlarges and weakens the heart muscle (hypertrophic cardiomyopathy). Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. These include a high forehead that narrows at the temples, a short nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), a small chin, and low-set ears. Overall, the face is broad and long, and the facial features are sometimes described as "coarse." Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled palms and soles; and a skin condition called keratosis pilaris, which causes small bumps to form on the arms, legs, and face. People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows. Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). Additional features of this disorder in children and adults can include an unusually large head (macrocephaly), short stature, problems with vision, and seizures. The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.  http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Failure to thrive
MedGen UID:
776583
Concept ID:
C2364119
Finding
Cavernous hemangioma
MedGen UID:
504697
Concept ID:
CN000983
Finding
The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
Hydronephrosis
MedGen UID:
504353
Concept ID:
CN000122
Finding
Severe distention of the kidney with dilation of the renal pelvis and calices.
Bulbous nose
MedGen UID:
66013
Concept ID:
C0240543
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Narrow forehead
MedGen UID:
326408
Concept ID:
C1839127
Finding
Deep philtrum
MedGen UID:
374311
Concept ID:
C1839797
Finding
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Finding
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Finding
Anteverted nares
MedGen UID:
339940
Concept ID:
C1853244
Finding
Coarse facial features
MedGen UID:
381459
Concept ID:
C1854600
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Open mouth
MedGen UID:
346627
Concept ID:
C1857628
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Submucous cleft hard palate
MedGen UID:
504380
Concept ID:
CN000171
Finding
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Absent eyebrow
MedGen UID:
505161
Concept ID:
CN002016
Finding
Absence of the eyebrow.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Underdeveloped supraorbital ridges
MedGen UID:
447141
Concept ID:
CN008729
Finding
Flatness of the supraorbital portion of the frontal bones.
Open bite
MedGen UID:
506402
Concept ID:
CN116541
Finding
Visible space between the dental arches in occlusion.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Progressive visual loss
MedGen UID:
355674
Concept ID:
C1866286
Finding
Nystagmus
MedGen UID:
409575
Concept ID:
C1963184
Finding
Optic nerve dysplasia
MedGen UID:
390938
Concept ID:
C2676026
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Myopia
MedGen UID:
504487
Concept ID:
CN000511
Finding
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Oculomotor apraxia
MedGen UID:
504541
Concept ID:
CN000618
Finding
Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Posteriorly rotated ears
MedGen UID:
336584
Concept ID:
C1849365
Finding
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Anterior creases of earlobe
MedGen UID:
506335
Concept ID:
CN008746
Finding
Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Tongue thrusting
MedGen UID:
473491
Concept ID:
C1829460
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Hydrocephalus
MedGen UID:
369747
Concept ID:
C1963137
Finding
Oculomotor apraxia
MedGen UID:
504541
Concept ID:
CN000618
Finding
Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Peripheral axonal neuropathy
MedGen UID:
505547
Concept ID:
CN003137
Finding
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Hypoplasia of the frontal lobes
MedGen UID:
501027
Concept ID:
CN006417
Finding
Underdevelopment of the frontal lobe of the cerebrum.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the corpus callosum.
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Osteopenia
MedGen UID:
409692
Concept ID:
C1968854
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Pectus carinatum
MedGen UID:
504592
Concept ID:
CN000722
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Hyperextensibility of the finger joints
MedGen UID:
446394
Concept ID:
CN001107
Finding
The ability of the finger joints to move beyond their normal range of motion.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Premature birth
MedGen UID:
776559
Concept ID:
C2028283
Finding
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Vomiting
MedGen UID:
776588
Concept ID:
C2712332
Finding
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Curly hair
MedGen UID:
488919
Concept ID:
C0558165
Finding
Slow-growing hair
MedGen UID:
371309
Concept ID:
C1832348
Finding
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Finding
Atopic dermatitis
MedGen UID:
338253
Concept ID:
C1847528
Finding
Multiple palmar creases
MedGen UID:
354610
Concept ID:
C1861872
Finding
Multiple plantar creases
MedGen UID:
350528
Concept ID:
C1861873
Finding
Hyperkeratosis
MedGen UID:
504662
Concept ID:
CN000900
Finding
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Multiple lentigines
MedGen UID:
504682
Concept ID:
CN000939
Finding
Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
Cavernous hemangioma
MedGen UID:
504697
Concept ID:
CN000983
Finding
The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
Absent eyebrow
MedGen UID:
505161
Concept ID:
CN002016
Finding
Absence of the eyebrow.
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Sparse hair
MedGen UID:
501034
Concept ID:
CN007096
Finding
Reduced density of hairs.
Cavernous hemangioma
MedGen UID:
504697
Concept ID:
CN000983
Finding
The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Pulmonic stenosis
MedGen UID:
504885
Concept ID:
CN001495
Finding
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Multiple palmar creases
MedGen UID:
354610
Concept ID:
C1861872
Finding
Hyperextensibility of the finger joints
MedGen UID:
446394
Concept ID:
CN001107
Finding
The ability of the finger joints to move beyond their normal range of motion.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Recent clinical studies

Etiology

Goodwin AF, Oberoi S, Landan M, Charles C, Groth J, Martinez A, Fairley C, Weiss LA, Tidyman WE, Klein OD, Rauen KA
Clin Genet 2013 Jun;83(6):539-44. Epub 2012 Sep 27 doi: 10.1111/cge.12005. [Epub ahead of print] PMID: 22946697Free PMC Article
Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan
Am J Med Genet A 2012 May;158A(5):1083-94. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35292. [Epub ahead of print] PMID: 22495831
Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M
Am J Med Genet C Semin Med Genet 2011 May 15;157C(2):129-35. Epub 2011 Apr 14 doi: 10.1002/ajmg.c.30295. [Epub ahead of print] PMID: 21495173Free PMC Article
Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B
Eur J Hum Genet 2009 Jun;17(6):733-40. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.256. [Epub ahead of print] PMID: 19156172Free PMC Article
Neumann TE, Allanson J, Kavamura I, Kerr B, Neri G, Noonan J, Cordeddu V, Gibson K, Tzschach A, Krüger G, Hoeltzenbein M, Goecke TO, Kehl HG, Albrecht B, Luczak K, Sasiadek MM, Musante L, Laurie R, Peters H, Tartaglia M, Zenker M, Kalscheuer V
Eur J Hum Genet 2009 Apr;17(4):420-5. Epub 2008 Oct 15 doi: 10.1038/ejhg.2008.188. [Epub ahead of print] PMID: 18854871Free PMC Article

Diagnosis

Sekiguchi K, Maeda T, Suenobu S, Kunisaki N, Shimizu M, Kiyota K, Handa YS, Akiyoshi K, Korematsu S, Aoki Y, Matsubara Y, Izumi T
Am J Med Genet A 2013 Oct;161A(10):2600-3. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36107. [Epub ahead of print] PMID: 23950000
Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M
Am J Med Genet C Semin Med Genet 2011 May 15;157C(2):129-35. Epub 2011 Apr 14 doi: 10.1002/ajmg.c.30295. [Epub ahead of print] PMID: 21495173Free PMC Article
Urosevic J, Sauzeau V, Soto-Montenegro ML, Reig S, Desco M, Wright EM, Cañamero M, Mulero F, Ortega S, Bustelo XR, Barbacid M
Proc Natl Acad Sci U S A 2011 Mar 22;108(12):5015-20. Epub 2011 Mar 7 doi: 10.1073/pnas.1016933108. [Epub ahead of print] PMID: 21383153Free PMC Article
Wright EB, Donnai D, Johnson D, Clayton-Smith J
Clin Dysmorphol 2011 Jan;20(1):15-20. doi: 10.1097/MCD.0b013e32833e8f1e. PMID: 21084979Free PMC Article
Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki M, Aoki Y, Matsubara Y
Brain Dev 2011 Feb;33(2):166-9. Epub 2010 Apr 14 doi: 10.1016/j.braindev.2010.03.008. [Epub ahead of print] PMID: 20395089

Prognosis

Çelik N, Cinaz P, Bideci A, Yüce Ö, Emeksiz HC, Döğer E, Çamurdan O
J Clin Res Pediatr Endocrinol 2014;6(1):55-8. doi: 10.4274/Jcrpe.1151. PMID: 24637312Free PMC Article
Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan
Am J Med Genet A 2012 May;158A(5):1083-94. Epub 2012 Apr 11 doi: 10.1002/ajmg.a.35292. [Epub ahead of print] PMID: 22495831
Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M
Am J Med Genet C Semin Med Genet 2011 May 15;157C(2):129-35. Epub 2011 Apr 14 doi: 10.1002/ajmg.c.30295. [Epub ahead of print] PMID: 21495173Free PMC Article
Al-Rahawan MM, Chute DJ, Sol-Church K, Gripp KW, Stabley DL, McDaniel NL, Wilson WG, Waldron PE
Am J Med Genet A 2007 Jul 1;143A(13):1481-8. doi: 10.1002/ajmg.a.31819. PMID: 17567882
Sabatino G, Verrotti A, Domizio S, Angeiozzi B, Chiarelli F, Neri G
Childs Nerv Syst 1997 Apr;13(4):238-41. PMID: 9202862

Clinical prediction guides

Hazan F, Aykut A, Hizarcioglu M, Tavli V, Onay H, Ozkinay F
Genet Couns 2012;23(2):305-11. PMID: 22876591
Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M
Am J Med Genet C Semin Med Genet 2011 May 15;157C(2):129-35. Epub 2011 Apr 14 doi: 10.1002/ajmg.c.30295. [Epub ahead of print] PMID: 21495173Free PMC Article
Urosevic J, Sauzeau V, Soto-Montenegro ML, Reig S, Desco M, Wright EM, Cañamero M, Mulero F, Ortega S, Bustelo XR, Barbacid M
Proc Natl Acad Sci U S A 2011 Mar 22;108(12):5015-20. Epub 2011 Mar 7 doi: 10.1073/pnas.1016933108. [Epub ahead of print] PMID: 21383153Free PMC Article
Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B
Eur J Hum Genet 2009 Jun;17(6):733-40. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.256. [Epub ahead of print] PMID: 19156172Free PMC Article
Ribeiro de Castro MC, de Aquino AM, Camilo C, Maceira JP, Ramos-e-Silva M
Int J Dermatol 2002 Dec;41(12):923-5. PMID: 12492991

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