Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3-Reference-Cited by-同舟云学术

Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3

Published:2010-11 Issue:6 Volume:27 Page:664-666
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:

Author:

BERK DAVID R.,DEL CARMEN BOENTE MARIA,MONTANARI DANIELA,TOLOZA MARIA GUADALUPE,PRIMC NORMA BETRIZ,PRADO MARIA INES,BAYLISS SUSAN J.,PIQUE LYNN M.,SCHRIJVER IRIS

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1525-1470.2010.01331.x/fullpdf

Reference5 articles.

1. Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene;Leroy;Am J Med Genet A,2007

2. Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?;Castro-Feijoo;Eur J Endocrinol,2008

3. Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations;Alatzoglou;J Clin Endocrinol Metab,2009

4. Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes;Schrijver;Genet Test,2004

5. Familial acanthosis nigricans due to K650T FGFR3 mutation;Berk;Arch Dermatol,2007

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2. p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype;European Journal of Medical Genetics;2020-02

3. Acanthosis nigricans, hypochondroplasia, and FGFR 3 mutations: Findings with five new patients, and a review of the literature;Pediatric Dermatology;2019-02-14

4. Acanthosis nigricans in achondroplasia;American Journal of Medical Genetics Part A;2018-10-31

5. Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients;The Journal of Dermatology;2018-08-31