Lipoid proteinosis (Urbach-Wiethe syndrome).

A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.

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Detalhes bibliográficos
Main Authors: Feiler-Ofry, V, Lewy, A, Regenbogen, L, Hanau, D, Katznelson, M B, Godel, V
Formato: Artigo
Idioma:Inglês
Publicado em: 1979
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1043596/
https://ncbi.nlm.nih.gov/pubmed/508682
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