Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.
J Hand Surg Eur Vol
; 34(2): 247-51, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19282404
ABSTRACT
Congenital duplication of the palm is a rare syndrome with the following features the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its gene analysis identifying the responsible gene mutation in exon 4 of the WNT7a gene, and detail the molecular basis of its clinical features.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deformidades Congênitas da Mão
/
Proteínas Wnt
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article