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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Bibliografische gegevens

Gepubliceerd in:	Proc Natl Acad Sci U S A
Hoofdauteurs:	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
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	National Academy of Sciences 1994
Onderwerpen:	Research Article
Online toegang:	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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