PubMed

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Shkalim V, Baris HN, Gal G, Gleiss R, Calderon S, Wessels M, Maat-Kievit A, Menten B, De Baere E, Hennekam RC, Schirmacher A, Bale S, Shohat M, Willems PJ.

Am J Med Genet A. 2009 Nov 16. [Epub ahead of print]PMID: 19921646 [PubMed - as supplied by publisher]Related articles

Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.

Armour CM, Humphreys P, Hennekam RC, Boycott KM.

Am J Med Genet A. 2009 Oct;149A(10):2254-7.PMID: 19760657 [PubMed - in process]Related articles

Connective tissue involvement in two patients with features of cranioectodermal dysplasia.

Fry AE, Klingenberg C, Matthes J, Heimdal K, Hennekam RC, Pilz DT.

Am J Med Genet A. 2009 Oct;149A(10):2212-5.PMID: 19760620 [PubMed - in process]Related articles

Monozygotic twins discordant for vascular malformations and dysregulated growth.

Oduber CE, Bliek J, van der Horst CM, van Steensel MA, Hennekam RC.

Eur J Med Genet. 2009 Aug 28. [Epub ahead of print]PMID: 19716450 [PubMed - as supplied by publisher]Related articles

Interpreting humanity's genes.

Shaw AC, Hennekam RC.

Eur J Med Genet. 2009 Nov-Dec;52(6):379-80. Epub 2009 Aug 12.PMID: 19679203 [PubMed - in process]Related articles

Nicolaides-Baraitser syndrome: Delineation of the phenotype.

Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC.

Am J Med Genet A. 2009 Aug;149A(8):1628-40.PMID: 19606471 [PubMed - indexed for MEDLINE]Related articles

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

Maas SM, Lombardi MP, van Essen AJ, Wakeling EL, Castle B, Temple IK, Kumar VK, Writzl K, Hennekam RC.

J Med Genet. 2009 Oct;46(10):716-20. Epub 2009 Jul 7.PMID: 19586929 [PubMed - in process]Related articles

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes.

Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RC, Buckley MF, Hussain K, Ellard S, Attersley AT.

JOP. 2009 Jul 6;10(4):457-8. No abstract available. PMID: 19581757 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic variability in 49 cases with ESCO2 mutations, including novel missense and codon deletion in the acetyltansferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Giovannucci Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW.

J Med Genet. 2009 Jul 1. [Epub ahead of print]PMID: 19574259 [PubMed - as supplied by publisher]Related articles

Familial clustering of giant congenital melanocytic nevi.

de Wijn RS, Zaal LH, Hennekam RC, van der Horst CM.

J Plast Reconstr Aesthet Surg. 2009 May 21. [Epub ahead of print]PMID: 19464972 [PubMed - as supplied by publisher]Related articles

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.

Di WL, Hennekam RC, Callard RE, Harper JI.

Br J Dermatol. 2009 Aug;161(2):404-12. Epub 2009 May 12.PMID: 19438860 [PubMed - in process]Related articles

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.

Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO.

Am J Hum Genet. 2009 May;84(5):698-705. Epub 2009 Apr 30.PMID: 19409524 [PubMed - indexed for MEDLINE]Related articlesFree article

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D.

J Am Soc Nephrol. 2009 May;20(5):1123-31. Epub 2009 Apr 23.PMID: 19389850 [PubMed - indexed for MEDLINE]Related articles

Morphological abnormalities in children with thyroidal congenital hypothyroidism.

Kempers MJ, Ozgen HM, Vulsma T, Merks JH, Zwinderman KH, de Vijlder JJ, Hennekam RC.

Am J Med Genet A. 2009 May;149A(5):943-51.PMID: 19367618 [PubMed - indexed for MEDLINE]Related articles

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.

Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Domené S, Vélez JI, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Njølstad PR, Brunner HG, Carey JC, Hehr U, Müsebeck J, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M.

J Med Genet. 2009 Jun;46(6):389-98. Epub 2009 Apr 2.PMID: 19346217 [PubMed - indexed for MEDLINE]Related articles

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF.

Hum Mol Genet. 2009 Jun 15;18(12):2257-65. Epub 2009 Mar 31.PMID: 19336477 [PubMed - indexed for MEDLINE]Related articles

A diagnostic flow chart for non-immune hydrops fetalis.

Bellini C, Hennekam RC, Bonioli E.

Am J Med Genet A. 2009 May;149A(5):852-3. No abstract available. PMID: 19334092 [PubMed - indexed for MEDLINE]Related articles

Etiology of nonimmune hydrops fetalis: a systematic review.

Bellini C, Hennekam RC, Fulcheri E, Rutigliani M, Morcaldi G, Boccardo F, Bonioli E.

Am J Med Genet A. 2009 May;149A(5):844-51. Review.PMID: 19334091 [PubMed - indexed for MEDLINE]Related articles

Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).

van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME.

Hum Genet. 2009 Jun;125(5-6):581-90. Epub 2009 Mar 19.PMID: 19296131 [PubMed - indexed for MEDLINE]Related articles

Baseline Quality of Life in patients with Klippel-Trenaunay syndrome.

Oduber CE, Khemlani K, Sillevis Smitt JH, Hennekam RC, van der Horst CM.

J Plast Reconstr Aesthet Surg. 2009 Mar 14. [Epub ahead of print]PMID: 19289309 [PubMed - as supplied by publisher]Related articles

Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.

de Winter CF, van Dijk F, Stolker JJ, Hennekam RC.

J Intellect Disabil Res. 2009 Apr;53(4):319-28. Epub 2009 Feb 2.PMID: 19187102 [PubMed - indexed for MEDLINE]Related articles

Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, Harper J, Wilson LC, Hennekam RC.

Pediatr Diabetes. 2009 May;10(3):193-7. Epub 2008 Oct 22.PMID: 19175903 [PubMed - indexed for MEDLINE]Related articles

Elements of morphology: standard terminology for the nose and philtrum.

Hennekam RC, Cormier-Daire V, Hall JG, Méhes K, Patton M, Stevenson RE.

Am J Med Genet A. 2009 Jan;149A(1):61-76.PMID: 19152422 [PubMed - indexed for MEDLINE]Related articles

Elements of morphology: introduction.

Allanson JE, Biesecker LG, Carey JC, Hennekam RC.

Am J Med Genet A. 2009 Jan;149A(1):2-5.PMID: 19127575 [PubMed - indexed for MEDLINE]Related articles

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP.

Nat Genet. 2009 Jan;41(1):95-100. Epub 2008 Dec 14.PMID: 19079258 [PubMed - indexed for MEDLINE]Related articles

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.

Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RC.

Am J Med Genet A. 2008 Dec 15;146A(24):3186-94.PMID: 19012331 [PubMed - indexed for MEDLINE]Related articles

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. Epub 2008 Sep 10.PMID: 18784092 [PubMed - indexed for MEDLINE]Related articlesFree article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

Nat Genet. 2008 Sep;40(9):1113-8.PMID: 18711368 [PubMed - indexed for MEDLINE]Related articles

Ophthalmological aspects of Pierson syndrome.

Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I.

Am J Ophthalmol. 2008 Oct;146(4):602-611. Epub 2008 Jul 31.PMID: 18672223 [PubMed - indexed for MEDLINE]Related articles

Molecular study of 33 families with Fraser syndrome new data and mutation review.

van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ.

Am J Med Genet A. 2008 Sep 1;146A(17):2252-7.PMID: 18671281 [PubMed - indexed for MEDLINE]Related articles

Genital anomalies in a patient with Treacher Collins syndrome.

Writzl K, Jeruc J, Oldridge M, Peterlin B, Hennekam RC.

Am J Med Genet A. 2008 Aug 15;146A(16):2169-71. No abstract available. PMID: 18627048 [PubMed - indexed for MEDLINE]Related articles

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.

J Med Genet. 2009 Apr;46(4):223-32. Epub 2008 Jun 11.PMID: 18550696 [PubMed - indexed for MEDLINE]Related articlesFree article

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Gaspar IM, Saldanha T, Cabral P, Vilhena MM, Tuna M, Costa C, Dagoneau N, Daire VC, Hennekam RC.

Am J Med Genet A. 2008 Jul 1;146A(13):1748-53. Review.PMID: 18546280 [PubMed - indexed for MEDLINE]Related articles

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.

Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, Lupski JR, Hammond P, Beales PL.

Proc Natl Acad Sci U S A. 2008 May 6;105(18):6714-9. Epub 2008 Apr 28.PMID: 18443298 [PubMed - indexed for MEDLINE]Related articlesFree article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW.

Hum Mol Genet. 2008 Jul 15;17(14):2172-80. Epub 2008 Apr 14.PMID: 18411254 [PubMed - indexed for MEDLINE]Related articlesFree article

Klippel-Trenaunay syndrome: diagnostic criteria and hypothesis on etiology.

Oduber CE, van der Horst CM, Hennekam RC.

Ann Plast Surg. 2008 Feb;60(2):217-23. Review.PMID: 18216519 [PubMed - indexed for MEDLINE]Related articles

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats.

Hess D, Keusch JJ, Oberstein SA, Hennekam RC, Hofsteenge J.

J Biol Chem. 2008 Mar 21;283(12):7354-60. Epub 2008 Jan 16.PMID: 18199743 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence and patterns of morphological abnormalities in patients with childhood cancer.

Merks JH, Ozgen HM, Koster J, Zwinderman AH, Caron HN, Hennekam RC.

JAMA. 2008 Jan 2;299(1):61-9.PMID: 18167407 [PubMed - indexed for MEDLINE]Related articlesFree article

Genetic syndromes and prenatally detected renal anomalies.

Deshpande C, Hennekam RC.

Semin Fetal Neonatal Med. 2008 Jun;13(3):171-80. Epub 2007 Dec 26. Review.PMID: 18162447 [PubMed - indexed for MEDLINE]Related articles

Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

van Haelst MM, Scambler PJ; Fraser Syndrome Collaboration Group, Hennekam RC.

Am J Med Genet A. 2007 Dec 15;143A(24):3194-203.PMID: 18000968 [PubMed - indexed for MEDLINE]Related articles

Two siblings with an unusual nasal malformation: further instances of craniorhiny?

Lees MM, Kangesu L, Hall P, Hennekam RC.

Am J Med Genet A. 2007 Dec 15;143A(24):3290-4.PMID: 17963218 [PubMed - indexed for MEDLINE]Related articles

LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.

Writzl K, Hoovers J, Sistermans EA, Hennekam RC.

Am J Med Genet A. 2007 Nov 1;143A(21):2612-5.PMID: 17935252 [PubMed - indexed for MEDLINE]Related articles

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM.

Hum Mutat. 2008 Jan;29(1):150-8.PMID: 17935213 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.PMID: 17846997 [PubMed - indexed for MEDLINE]Related articlesFree article

Growth hormone analysis and treatment in Ellis-van Creveld syndrome.

Versteegh FG, Buma SA, Costin G, de Jong WC, Hennekam RC; EvC Working Party.

Am J Med Genet A. 2007 Sep 15;143A(18):2113-21.PMID: 17702014 [PubMed - indexed for MEDLINE]Related articles

Immunological abnormalities in CHARGE syndrome.

Writzl K, Cale CM, Pierce CM, Wilson LC, Hennekam RC.

Eur J Med Genet. 2007 Sep-Oct;50(5):338-45. Epub 2007 May 27. Review.PMID: 17684005 [PubMed - indexed for MEDLINE]Related articles

Infertility, assisted reproduction technologies and imprinting disturbances: a Dutch study.

Doornbos ME, Maas SM, McDonnell J, Vermeiden JP, Hennekam RC.

Hum Reprod. 2007 Sep;22(9):2476-80. Epub 2007 Jun 23.PMID: 17586835 [PubMed - indexed for MEDLINE]Related articlesFree article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Brancati F, Barrano G, Silhavy JL, Marsh SE, Travaglini L, Bielas SL, Amorini M, Zablocka D, Kayserili H, Al-Gazali L, Bertini E, Boltshauser E, D'Hooghe M, Fazzi E, Fenerci EY, Hennekam RC, Kiss A, Lees MM, Marco E, Phadke SR, Rigoli L, Romano S, Salpietro CD, Sherr EH, Signorini S, Stromme P, Stuart B, Sztriha L, Viskochil DH, Yuksel A, Dallapiccola B; International JSRD Study Group, Valente EM, Gleeson JG.

Am J Hum Genet. 2007 Jul;81(1):104-13. Epub 2007 May 18.PMID: 17564967 [PubMed - indexed for MEDLINE]Related articlesFree article

Cranio-osteoarthropathy in sibs.

Dabir T, Sills AM, Hall CM, Bennett C, Wilson LC, Hennekam RC.

Clin Dysmorphol. 2007 Jul;16(3):197-201.PMID: 17551338 [PubMed - indexed for MEDLINE]Related articles

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.

Am J Hum Genet. 2007 May;80(5):994-1001. Epub 2007 Mar 23.PMID: 17436255 [PubMed - indexed for MEDLINE]Related articlesFree article