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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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1994-08, Vol.91 (17), p.8102-8106
Hauptverfasser:	Muenke, Maximilian, Gurrieri, Fiorella, Bay, Carolyn, Yi, David H., Collins, Amanda L., Johnson, Virginia P., Raoul C. M. Hennekam, Schaefer, G. Bradley, Weik, LuAnn, Lubinsky, Mark S., Daack-Hirsch, Sandy, Moore, Cynthia A., Dobyns, William B., Murray, Jeffrey C., Price, R. Arlen
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Autopsies Birth defects Blotting, Southern Brain Cell Line Child Child, Preschool chromosome 7 Chromosomes Chromosomes, Human, Pair 7 DNA DNA - blood DNA - genetics DNA - isolation & purification Female Genes Genes, Dominant Genetic heterogeneity Genetic Linkage Genetic Markers Heredity Holoprosencephaly Holoprosencephaly - genetics HPE3 gene Humans Infant Infant, Newborn linkage analysis Lod score Male man Middle Aged Modeling Pedigree Phenotype Phenotypes Polymerase Chain Reaction
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