Clinical and molecular studies of brachydactyly type D.
Am J Med Genet
; 85(4): 413-8, 1999 Aug 06.
Article
em En
| MEDLINE
| ID: mdl-10398270
ABSTRACT
We report on the clinical manifestations in six affected individuals from a four-generation family that segregates brachydactyly type D (BDD). All affected individuals have either bilateral and symmetric or unilateral first distal phalangeal hypoplasia. Metacarpal-phalangeal profiles show that some affected individuals also have a more generalized involvement of the apical skeleton. However, other than first distal phalangeal hypoplasia, there is no consistent pattern of associated skeletal involvement. Linkage analyses were preformed between the BDD phenotype in this family and six loci known to contain genes involved in apical skeletal patterning. No statistically significant linkage was detected.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deformidades Congênitas do Pé
/
Deformidades Congênitas da Mão
/
Ligação Genética
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Estados Unidos