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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Vydáno v:	Proc Natl Acad Sci U S A
Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	National Academy of Sciences 1994
Témata:	Research Article
On-line přístup:	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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