1.
Pediatr Dermatol
; 27(6): 664-6, 2010.
Article
in English
| MEDLINE
| ID: mdl-21510009
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.
Subject(s)
Acanthosis Nigricans/complications , Acanthosis Nigricans/genetics , Osteochondrodysplasias/complications , Osteochondrodysplasias/genetics , Receptor, Fibroblast Growth Factor, Type 3/genetics , Acanthosis Nigricans/diagnostic imaging , Child , Female , Humans , Osteochondrodysplasias/diagnostic imaging , Point Mutation , Radiography
2.
Santa Cruz; s.n; 2004. 85 p. ilus, tab, graf.
Thesis
in Spanish
|
LILACS-Express
| LIBOCS, LIBOSP
| ID: biblio-1325527
