Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome-Reference-Cited by-同舟云学术

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome

Published:1998-09 Issue:3 Volume:63 Page:711-716
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wilkin Douglas J.,Szabo Jinny K.,Cameron Rhoda,Henderson Shirley,Bellus Gary A.,Mack Michelle L.,Kaitila Ilkka,Loughlin John,Munnich Arnold,Sykes Bryan,Bonaventure Jacky,Francomano Clair A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference26 articles.

1. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes;Bellus;Nat Genet,1996

2. Achondroplasia is defined by recurrent G380R mutations of FGFR3;Bellus;Am J Hum Genet,1995

3. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat Genet,1995

4. Apert's syndrome (a type of acrocephalosyndactyly)—observations on a British series of thirty-nine cases;Blank;Ann Hum Genet,1960

5. Achondroplasia in two sisters with normal parents;Bowen;Birth Defects,1974

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