p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference24 articles.
1. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization;Adar;J. Bone Miner. Res.: Off. J. Amer. Soc. Bone Min. Res.,2002
2. Achondroplasia Is Defined by Recurrent G380R Mutations of FGFR3;Bellus,1995
3. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia;Bellus;Nat. Genet.,1995
4. Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3;Berk;Pediatr. Dermatol.,2010
5. FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature;Blomberg;Dermatology (Basel, Switzerland),2010
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