Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.

Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance and variable expressivity. Familial HPE has been reported in many families with autosomal dominant inheritance in some and apparent autosomal recessive inheritance in other...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Muenke, M, Gurrieri, F, Bay, C, Yi, D H, Collins, A L, Johnson, V P, Hennekam, R C, Schaefer, G B, Weik, L, Lubinsky, M S
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1994
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC44553/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8058764/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.17.8102
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