| Literature DB >> 21510009 |
David R Berk1, Maria Del Carmen Boente, Daniela Montanari, Maria Guadalupe Toloza, Norma Betriz Primc, Maria Ines Prado, Susan J Bayliss, Lynn M Pique, Iris Schrijver.
Abstract
Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.Entities:
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Year: 2010 PMID： 21510009 DOI： 10.1111/j.1525-1470.2010.01331.x
Source DB: PubMed Journal: Pediatr Dermatol ISSN： 0736-8046 Impact factor: 1.588