RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity-Reference-Cited by-同舟云学术

RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

Published:2007-06 Issue:6 Volume:80 Page:1162-1170
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Jenkins Dagan,Seelow Dominik,Jehee Fernanda S.,Perlyn Chad A.,Alonso Luís G.,Bueno Daniela F.,Donnai Dian,Josifiova Dragana,Mathijssen Irene M.J.,Morton Jenny E.V.,Helene Ørstavik Karen,Sweeney Elizabeth,Wall Steven A.,Marsh Jeffrey L.,Nürnberg Peter,Rita Passos-Bueno Maria,Wilkie Andrew O.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference38 articles.

1. Two sisters showing malformations of the skull and other congenital abnormalities;Carpenter;Rep Soc Study Dis Child Lond,1901

2. Case of acrocephaly, with other congenital malformations;Carpenter;Proc Roy Soc Med,1909

3. Carpenter’s syndrome: acrocephalopolysyndactyly;Temtamy;J Pediatr,1966

4. Carpenter syndrome: natural history and clinical spectrum;Robinson;Am J Med Genet,1985

5. Acrocephalopolysyndactyly type II—Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes;Cohen;Am J Med Genet,1987

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