De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome-Reference-Cited by-同舟云学术

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Published:2012-02 Issue:2 Volume:90 Page:290-294
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Simpson Michael A.,Deshpande Charu,Dafou Dimitra,Vissers Lisenka E.L.M.,Woollard Wesley J.,Holder Susan E.,Gillessen-Kaesbach Gabriele,Derks Ronny,White Susan M.,Cohen-Snuijf Ruthy,Kant Sarina G.,Hoefsloot Lies H.,Reardon Willie,Brunner Han G.,Bongers Ernie M.H.F.,Trembath Richard C.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Genitopatellar syndrome: A new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation;Cormier-Daire;J. Med. Genet.,2000

2. Genitopatellar syndrome: A recognizable phenotype;Reardon;Am. J. Med. Genet.,2002

3. Genitopatellar syndrome: A further case;Brugha;Clin. Dysmorphol.,2011

4. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome;Dreyer;Nat. Genet.,1998

5. Mutations in the human TBX4 gene cause small patella syndrome;Bongers;Am. J. Hum. Genet.,2004

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