An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
J Med Genet
; 33(11): 972-4, 1996 Nov.
Article
en En
| MEDLINE
| ID: mdl-8950682
We report a family in which a phenotype of acromegaloid facial appearance (AFA) and generalised hypertrichosis terminalis segregates through three generations. Congenital hypertrichosis terminalis and AFA have been previously reported as independent autosomal dominant traits. This is the first report to delineate an autosomal dominant transmission of the combined phenotype.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Acromegalia
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Cara
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Hipertricosis
Límite:
Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
J Med Genet
Año:
1996
Tipo del documento:
Article
Pais de publicación:
Reino Unido