Article
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Clinical genetics - 1 Jun 2016
Mouden C, Dubourg C, Carré W, Rose S, Quelin C, Akloul L, Hamdi-Rozé H, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V
Abstract excerpt
Holoprosencephaly (HPE) is the most common congenital cerebral malformation, characterized by impaired forebrain cleavage and midline facial anomalies. Heterozygous mutations in 14 genes have been associated with HPE and are often inherited from an unaffected parent, underlying complex genetic bases. It is now emerging that HPE may result from a combination of multiple genetic events, rather than from a single...
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