Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene


Autoria(s): ZECHI-CEIDEA, Roseli Maria; OLIVEIRA, Nelio Alessando Jesus; GUION-ALMEIDA, Maria Leine; ANTUNES, Luis Fernando B. B.; RICHIERI-COSTA, Antonio; PASSOS-BUENO, Maria Rita Santos
Contribuinte(s)

UNIVERSIDADE DE SÃO PAULO

Data(s)

19/10/2012

19/10/2012

2008

Identificador

CLINICAL DYSMORPHOLOGY, v.17, n.3, p.225-226, 2008

0962-8827

http://producao.usp.br/handle/BDPI/26921

http://apps.isiknowledge.com/InboundService.do?Func=Frame&product=WOS&action=retrieve&SrcApp=EndNote&UT=000256891100018&Init=Yes&SrcAuth=ResearchSoft&mode=FullRecord

Idioma(s)

eng

Publicador

LIPPINCOTT WILLIAMS & WILKINS

Relação

Clinical Dysmorphology

Direitos

closedAccess

Copyright LIPPINCOTT WILLIAMS & WILKINS

Palavras-Chave #SCHMID METAPHYSEAL CHONDRODYSPLASIA #MUTATIONS #SPECTRUM #Genetics & Heredity
Tipo

article

original article

publishedVersion