Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Eighteen males, 17 of whom were members of a single family, affected with angiokeratoma corporis diffusum were examined in detail to determine the extent of clinical variation of the expression of what was almost certainly the same X-linked mutation in each. The commonest symptom was episodic bouts...

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Библиографические подробности
Главные авторы: Spence, M W, Clarke, J T, D'Entremont, D M, Sapp, G A, Smith, E R, Goldbloom, A L, Davar, G
Формат: Artigo
Язык:Inglês
Опубликовано: 1978
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013757/
https://ncbi.nlm.nih.gov/pubmed/218016
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