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An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis.
Irvine, A D; Dolan, O M; Hadden, D R; Stewart, F J; Bingham, E A; Nevin, N C.
Afiliación
  • Irvine AD; Department of Medical Genetics, Belfast City Hospital, Northern Ireland.
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acromegalia / Cara / Hipertricosis Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 1996 Tipo del documento: Article Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Acromegalia / Cara / Hipertricosis Límite: Child, preschool / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 1996 Tipo del documento: Article Pais de publicación: Reino Unido