Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder.
Am J Med Genet
; 61(1): 42-4, 1996 Jan 02.
Article
em En
| MEDLINE
| ID: mdl-8741916
ABSTRACT
We report on a brother and a sister with congenital nystagmus, cone-rod dysfunction, high myopia, and aplasia cutis congenita on the midline of the scalp vertex. To our knowledge this familial oculocutaneous condition, transmitted as an autosomal recessive trait, has not been reported previously.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
/
Displasia Ectodérmica
/
Nistagmo Patológico
Limite:
Child, preschool
/
Female
/
Humans
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Infant
/
Male
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article