Article
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Human molecular genetics - 1 Jul 2013
Ghoumid Jamal, Drevillon Loïc, Alavi-Naini Seyedeh Maryam, Bondurand Nadège, Rio Marlène, Briand-Suleau Audrey, Nasser Mayssa, Goodwin Linda, Raymond Patrick, Yanicostas Constantin, Goossens Michel, Lyonnet Stanislas, Mowat David, Amiel Jeanne, Soussi-Yanicostas Nadia, Giurgea Irina
Abstract excerpt
Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR). MWS is caused by de novo heterozygous mutations in the ZEB2 gene. The majority of mutations lead to haplo-insufficiency...
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