Neurofibromatosis in the South African Indian community--further evidence for heterogeneity?
S Afr Med J
; 72(7): 478-80, 1987 Oct 03.
Article
en En
| MEDLINE
| ID: mdl-3116684
Ninety-five members of three South African Indian families were examined for neurofibromatosis (NF) and 45 were deemed to be affected in terms of accepted diagnostic criteria. Analysis of the pedigrees revealed autosomal dominant inheritance with full penetrance. The absence of macromelanosomes in skin biopsies of café-au-lait macules and the failure to detect Lisch nodules (hamartomas of the iris) in this population group raises further evidence that NF might be a heterogeneous condition. The potential importance of heterogeneity in molecular linkage studies is emphasised.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neurofibromatosis 1
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Africa
/
Asia
Idioma:
En
Revista:
S Afr Med J
Año:
1987
Tipo del documento:
Article
Pais de publicación:
Sudáfrica