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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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Publicat a:Proc Natl Acad Sci U S A
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 1994
Matèries:
Research Article
Accés en línia: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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