Blastogenesis dominant 1: a sequence with midline anomalies and heterotaxy.
Am J Med Genet
; 68(4): 405-8, 1997 Feb 11.
Article
em En
| MEDLINE
| ID: mdl-9021011
ABSTRACT
Lateralization defect is a heterogeneous condition with different modes of transmission (autosomal recessive, dominant or X-linked). Here, we report on 3 additional families that contribute to the description of phenotypic anomalies of the autosomal dominant type. Phenotypic anomalies include lateralization defects, cardiac malformations, diaphragmatic hernia, urologic and neurologic anomalies. We suggest calling this sequence BGD1 for blastogenesis dominant 1 because the deleterious effect probably occurs during blastogenesis and involves not only lateralization but other defects as well.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Blastocisto
/
Desenvolvimento Embrionário e Fetal
/
Genes Dominantes
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article