A second family with CATSHL syndrome: Confirmatory report of another uniqueFGFR3syndrome-Reference-Cited by-同舟云学术

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A second family with CATSHL syndrome: Confirmatory report of another uniqueFGFR3syndrome

Published:2016-05-03 Issue:7 Volume:170 Page:1908-1911
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Escobar Luis F.¹,Tucker Megan¹,Bamshad Michael²

Affiliation:

1. Medical Genetics and Neurodevelopmental Pediatrics Center; Payton Manning Children's Hospital; St. Vincent Hospital; Indianapolis Indiana

2. Center for Clinical and Translational Research; Department of Pediatrics; University of Washington School of Medicine; Seattle Washington

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference9 articles.

1. Frequent activating mutations of FGFR3 in human bladder and cervical carcinomas;Cappellen;Nat Genet,1999

2. Chronic lymphocytic leukemiaWith a FGFR3 translocation: Case report and literature review of an uncommon cytogenetic event;Geller;Cancer Genet,2014

3. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism;Horton;Rev Endocr Metab Disord,2002

4. Isolation of an additional member of the fibroblast growth factor receptor family, FGFR3;Keegan;Proc Nat Acad Sci,1991

5. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum;Lievens;J Biol Chem,2003

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1. CATSHL syndrome, a new family and phenotypic expansion;Clinical Genetics;2023-11-22

2. Slipped capital femoral epiphyses: A major on‐target adverse event associated with FGFR tyrosine kinase inhibitors in pediatric patients;Pediatric Blood & Cancer;2023-05-09

3. Genetic variants of FGFR family associated with height, hypertension, and osteoporosis;Annals of Human Biology;2023-01-02

4. Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood;Annals of Pediatric Endocrinology & Metabolism;2022-06-30

5. New developments in the biology of fibroblast growth factors;WIREs Mechanisms of Disease;2022-02-09

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