Congenital hypoplastic anemia: another example of autosomal dominant transmission.
Am J Med Genet
; 50(1): 87-9, 1994 Mar 01.
Article
em En
| MEDLINE
| ID: mdl-8160759
ABSTRACT
Congenital hypoplastic anemia (CHA) or Blackfan-Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood. Associated phenotypic abnormalities such as triphalangeal thumbs and cleft lip and/or palate are found in 70% of cases. Although most cases are sporadic, several reports suggest either autosomal dominant or autosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA.
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Base de dados:
MEDLINE
Assunto principal:
Anemia de Fanconi
/
Genes Dominantes
Limite:
Adult
/
Humans
/
Infant
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article