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Items: 1 to 50 of 131

1.

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Demarest S, Roussel Y, Ciapaite J, van Roermund CWT, Kernohan KD, Kosuta C, Ban K, Ito Y, McBride S, Al-Thihli K, Abdelrahim RA, Koul R, Al Futaisi A, Haaxma CA, Olson H, Sigurdardottir LY, Arnold GL, Gerkes EH, Boon M, Heiner-Fokkema MR, Noble S, Bosma M, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Majewski J, Cho MT, Begtrup A, Wasserman WW, Bui T, Brimble E, Violante S, Houten SM, Wevers RA, van Faassen M, Kema IP, Lepage N; Care4Rare Canada Consortium, Lines MA, Dyment DA, Wanders RJA, Verhoeven-Duif N, Ekker M, Boycott KM, Friedman JM, Pena IA, van Karnebeek CDM.

Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.

PMID:
30668673
2.

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy.

Ito Y, Hartley T, Baird S, Venkateswaran S, Simons C, Wolf NI, Boycott KM, Dyment DA, Kernohan KD.

Neurol Genet. 2018 Nov 13;4(6):e288. doi: 10.1212/NXG.0000000000000288. eCollection 2018 Dec. No abstract available.

3.

Unsolved recognizable patterns of human malformation: Challenges and opportunities.

Boycott KM, Dyment DA, Innes AM.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):382-386. doi: 10.1002/ajmg.c.31665.

PMID:
30580485
4.

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.

Innes AM, McInnes BL, Dyment DA.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):387-397. doi: 10.1002/ajmg.c.31661.

PMID:
30580484
5.

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Hartley T, Balcı TB, Rojas SK, Eaton A, Canada CR, Dyment DA, Boycott KM.

Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):458-463. doi: 10.1002/ajmg.c.31662.

PMID:
30580481
6.

Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.

El Demellawy D, Lee JY, McDonell L, Dyment DA, Knisely AS, McGowan-Jordan J, Ngan B, Finegold M, Kapur RP, Nasr A.

Pediatr Dev Pathol. 2018 Nov 29:1093526618806750. doi: 10.1177/1093526618806750. [Epub ahead of print]

PMID:
30497332
7.

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.

Kernohan KD, Hartley T, Naumenko S, Armour CM, Graham GE, Nikkel SM, Lines M, Geraghty MT, Richer J, Mears W, Boycott KM, Dyment DA.

Am J Med Genet A. 2018 Jul;176(7):1688-1691. doi: 10.1002/ajmg.a.38838. No abstract available.

PMID:
30160830
8.

Epilepsy genetics: Current knowledge, applications, and future directions.

Myers KA, Johnstone DL, Dyment DA.

Clin Genet. 2019 Jan;95(1):95-111. doi: 10.1111/cge.13414. Epub 2018 Aug 2. Review.

PMID:
29992546
9.

Periodic breathing in patients with NALCN mutations.

Bourque DK, Dyment DA, MacLusky I, Kernohan KD; Care4Rare Canada Consortium, McMillan HJ.

J Hum Genet. 2018 Oct;63(10):1093-1096. doi: 10.1038/s10038-018-0484-1. Epub 2018 Jul 3.

PMID:
29968795
10.

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Ito YA, Smith AC, Kernohan KD, Pena IA, Ahmed A, McDonell LM, Beaulieu C, Bulman DE, Smidt A, Sawyer SL; Care4Rare Canada Consortium, Dyment DA, Boycott KM, Clericuzio CL.

Clin Genet. 2018 Oct;94(3-4):303-312. doi: 10.1111/cge.13388. Epub 2018 Jun 29.

PMID:
29851065
11.

ASAH1-Related Disorders.

Dyment DA, Bennett SAL, Medin JA, Levade T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Mar 29.

12.

A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.

Zambonin JL, Dyment DA, Xi Y, Lamont RE, Hartley T, Miller E, Kerr M; Care4Rare Canada Consortium, Boycott KM, Parboosingh JS, Venkateswaran S.

Neurogenetics. 2018 Jan;19(1):61-65. doi: 10.1007/s10048-017-0534-4. Epub 2017 Dec 15.

PMID:
29247375
13.

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Kernohan KD, Hartley T, Alirezaie N; Care4Rare Canada Consortium, Robinson PN, Dyment DA, Boycott KM.

Hum Mutat. 2018 Feb;39(2):197-201. doi: 10.1002/humu.23374. Epub 2017 Dec 14.

PMID:
29193559
14.

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.

Bourque DK, Hartley T, Nikkel SM, Pohl D, Tétreault M, Kernohan KD; Care4Rare Canada Consortium, Dyment DA.

Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21. Review.

PMID:
29066376
15.

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.

Pena IA, Roussel Y, Daniel K, Mongeon K, Johnstone D, Weinschutz Mendes H, Bosma M, Saxena V, Lepage N, Chakraborty P, Dyment DA, van Karnebeek CDM, Verhoeven-Duif N, Bui TV, Boycott KM, Ekker M, MacKenzie A.

Genetics. 2017 Dec;207(4):1501-1518. doi: 10.1534/genetics.117.300137. Epub 2017 Oct 23.

16.

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T; Care4Rare Consortium, Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M.

Hum Mol Genet. 2017 Oct 1;26(19):3713-3721. doi: 10.1093/hmg/ddx256.

PMID:
28934384
17.

Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

Hartley T, Wagner JD, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque PR, Parboosingh JS, Smith C, McInnes B, Innes AM, Bernier F, Curry CJ, Yoon G, Horvath GA, Bareke E, Gillespie M; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Bulman DE, Dyment DA, Boycott KM.

Clin Genet. 2018 Feb;93(2):301-309. doi: 10.1111/cge.13101. Epub 2017 Dec 12.

PMID:
28708278
18.

Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P; Care4Rare Consortium, Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA.

Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21.

19.

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Malam F, Hartley T, Gillespie MK, Armour CM, Bariciak E, Graham GE, Nikkel SM, Richer J, Sawyer SL, Boycott KM, Dyment DA.

Am J Med Genet A. 2017 Jul;173(7):1839-1847. doi: 10.1002/ajmg.a.38250. Epub 2017 May 9.

PMID:
28488422
20.

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome.

Au PYB, Huang L, Broley S, Gallagher L, Creede E, Lahey D, Ordorica S, Mina K, Boycott KM, Baynam G, Dyment DA.

Eur J Med Genet. 2017 Jul;60(7):359-364. doi: 10.1016/j.ejmg.2017.03.013. Epub 2017 Apr 1.

PMID:
28377321
21.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM.

Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077.

PMID:
28334793
22.

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.

Kernohan KD, Frésard L, Zappala Z, Hartley T, Smith KS, Wagner J, Xu H, McBride A, Bourque PR, Consortium CRC, Bennett SAL, Dyment DA, Boycott KM, Montgomery SB, Warman Chardon J.

Hum Mutat. 2017 Jun;38(6):611-614. doi: 10.1002/humu.23211. Epub 2017 Mar 28.

23.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Bhola PT, Hartley T, Bareke E; Care4Rare Canada Consortium, Boycott KM, Nikkel SM, Dyment DA.

J Hum Genet. 2017 Jun;62(6):661-663. doi: 10.1038/jhg.2017.18. Epub 2017 Feb 23.

PMID:
28228640
24.

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium, Saunders C, Boycott KM, Thiffault I.

Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6.

PMID:
28185376
25.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M; FORGE Canada Consortium; Care4Rare Canada Consortium, Innes AM, Boycott KM.

Clin Genet. 2017 Sep;92(3):281-289. doi: 10.1111/cge.12987. Epub 2017 Mar 13.

PMID:
28170084
26.

Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.

Kernohan KD, McBride A, Xi Y, Martin N, Schwartzentruber J, Dyment DA, Majewski J, Blaser S; Care4Rare Canada Consortium, Boycott KM, Chitayat D.

Clin Genet. 2017 May;91(5):708-716. doi: 10.1111/cge.12884. Epub 2016 Nov 30.

PMID:
27718516
27.

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.

Hamilton A, Tétreault M, Dyment DA, Zou R, Kernohan K, Geraghty MT; FORGE Canada Consortium; Care4Rare Canada Consortium, Hartley T, Boycott KM.

Mol Genet Genomic Med. 2016 May 10;4(5):504-12. doi: 10.1002/mgg3.223. eCollection 2016 Sep.

28.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H, Luco SM, Li R, Bareke E, Beaulieu C, Jarinova O, Carson N, Nikkel SM, Graham GE, Richer J, Armour C, Bulman DE, Chakraborty P, Geraghty M, Lines MA, Lacaze-Masmonteil T, Majewski J, Boycott KM, Dyment DA.

CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30.

29.

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Ferreira P, Luco SM, Sawyer SL, Davila J, Boycott KM, Dyment DA.

Neurol Genet. 2015 Dec 22;2(1):e38. doi: 10.1212/NXG.0000000000000038. eCollection 2016 Feb.

30.

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

Luco SM, Pohl D, Sell E, Wagner JD, Dyment DA, Daoud H.

BMC Med Genet. 2016 Feb 27;17:15. doi: 10.1186/s12881-016-0276-4. Review.

31.

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M; Care4Rare Consortium, Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA.

Eur J Hum Genet. 2016 Jul;24(7):1084-8. doi: 10.1038/ejhg.2015.243. Epub 2015 Nov 25.

32.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.

Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C.

Clin Genet. 2016 Apr;89(4):501-506. doi: 10.1111/cge.12688. Epub 2015 Nov 27.

33.

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Ben Fadel N, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA.

Am J Med Genet A. 2015 Nov;167A(11):2867. doi: 10.1002/ajmg.a.37270. Epub 2015 Aug 26. No abstract available.

PMID:
26480306
34.

Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

Daoud H, Zhang D, McMurray F, Yu A, Luco SM, Vanstone J, Jarinova O, Carson N, Wickens J, Shishodia S, Choi H, McDonough MA, Schofield CJ, Harper ME, Dyment DA, Armour CM.

J Med Genet. 2016 Mar;53(3):200-7. doi: 10.1136/jmedgenet-2015-103399. Epub 2015 Sep 16.

PMID:
26378117
35.

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium.

Am J Med Genet A. 2016 Jan;170A(1):11-8. doi: 10.1002/ajmg.a.37389. Epub 2015 Sep 16.

PMID:
26373900
36.

Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle.

Ennis J, Dyment DA, Michaud J, McMillan HJ.

Can J Neurol Sci. 2015 Sep;42(5):338-40. doi: 10.1017/cjn.2015.59. No abstract available.

PMID:
26348902
37.

Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.

Wagner JD, Huang L, Tetreault M, Majewski J, Boycott KM, Bulman DE; Care4Rare Canada Consortium, Dyment DA, McMillan HJ.

Neuromuscul Disord. 2015 Oct;25(10):794-9. doi: 10.1016/j.nmd.2015.07.017. Epub 2015 Aug 5.

PMID:
26298607
38.

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Warman Chardon J, Beaulieu C, Hartley T, Boycott KM, Dyment DA.

Curr Neurol Neurosci Rep. 2015 Sep;15(9):64. doi: 10.1007/s11910-015-0584-7. Review.

PMID:
26289954
39.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium, Majewski J, Boycott KM.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

40.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, Majewski J, Boycott KM, Screaton RA, Nicholson G.

Hum Mol Genet. 2015 Sep 15;24(18):5109-14. doi: 10.1093/hmg/ddv229. Epub 2015 Jun 17.

PMID:
26085578
41.

Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

Balci TB, Sawyer SL, Davila J, Humphreys P, Dyment DA.

Eur J Med Genet. 2015 Jun-Jul;58(6-7):351-4. doi: 10.1016/j.ejmg.2015.04.006. Epub 2015 May 13.

PMID:
25979662
42.

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG.

J Clin Invest. 2015 Jun;125(6):2363-8. doi: 10.1172/JCI81163. Epub 2015 May 4.

43.

Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE.

Richer J, Daoud H, Geier P, Jarinova O, Carson N, Feberova J, Ben Fadel N, Unrau J, Bareke E, Khatchadourian K, Bulman DE, Majewski J, Boycott KM, Dyment DA.

Am J Med Genet A. 2015 Jul;167(7):1654-8. doi: 10.1002/ajmg.a.37067. Epub 2015 Apr 21. Erratum in: Am J Med Genet A. 2015 Nov;167A(11):2867. Fadfel, Nadya Ben [corrected to Ben Fadel, Nadya].

PMID:
25899979
44.

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.

Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM, Dyment DA.

Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26.

PMID:
25589244
45.

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

Sawyer SL, Tian L, Kähkönen M, Schwartzentruber J, Kircher M; University of Washington Centre for Mendelian Genomics; FORGE Canada Consortium, Majewski J, Dyment DA, Innes AM, Boycott KM, Moreau LA, Moilanen JS, Greenberg RA.

Cancer Discov. 2015 Feb;5(2):135-42. doi: 10.1158/2159-8290.CD-14-1156. Epub 2014 Dec 3.

46.

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL; FORGE Canada Consortium, Bulman DE, Majewski J, Woulfe J, Michaud J, Boycott KM.

Neurobiol Aging. 2015 Feb;36(2):1222.e1-5. doi: 10.1016/j.neurobiolaging.2014.09.005. Epub 2014 Sep 6.

PMID:
25316601
47.

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

Dyment DA, Tétreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium; Care4Rare Canada.

Clin Genet. 2015 Jul;88(1):34-40. doi: 10.1111/cge.12464. Epub 2014 Aug 28.

PMID:
25046240
48.

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome.

Dyment DA, Gibson WT, Huang L, Bassyouni H, Hegele RA, Innes AM.

Eur J Med Genet. 2014 Sep;57(9):524-6. doi: 10.1016/j.ejmg.2014.06.006. Epub 2014 Jun 28.

PMID:
24980513
49.

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

Venkateswaran S, Myers KA, Smith AC, Beaulieu CL, Schwartzentruber JA; FORGE Canada Consortium, Majewski J, Bulman D, Boycott KM, Dyment DA.

Epilepsia. 2014 Jul;55(7):e75-9. doi: 10.1111/epi.12663. Epub 2014 Jun 5.

50.

SHORT Syndrome.

Innes AM, Dyment DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2014 May 15.

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