A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome-Reference-Cited by-同舟云学术

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Published:2006-11 Issue:5 Volume:79 Page:935-941
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Toydemir Reha M.,Brassington Anna E.,Bayrak-Toydemir Pınar,Krakowiak Patrycja A.,Jorde Lynn B.,Whitby Frank G.,Longo Nicola,Viskochil David H.,Carey John C.,Bamshad Michael J.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. FGFs, their receptors, and human limb malformations: clinical and molecular correlations;Wilkie;Am J Med Genet,2002

2. Mutations in different components of FGF signaling in LADD syndrome;Rohmann;Nat Genet,2006

3. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene;Tavormina;Am J Hum Genet,1999

4. Fibroblast growth factor receptor 3 is a negative regulator of bone growth;Deng;Cell,1996

5. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3;Colvin;Nat Genet,1996

Cited by 134 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies;Cancer Communications;2024-08-19

2. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport;Cellular and Molecular Life Sciences;2024-08-08

3. Accelerated Linear Growth during Erdafitinib Treatment: An FGFR-Related, but Growth Factor and Sex Steroid-Independent Mechanism?;Hormone Research in Paediatrics;2024-07-31

4. Pre-hypertrophic chondrogenic enhancer landscape of limb and axial skeleton development;Nature Communications;2024-06-06

5. Skeletal overgrowth in a pre-pubescent child treated with pan-FGFR inhibitor;Heliyon;2024-06