Article
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Human genetics - 1 Mar 2010
Hehr Ute, Pineda-Alvarez Daniel E, Uyanik Goekhan, Hu Ping, Zhou Nan, Hehr Andreas, Schell-Apacik Chayim, Altus Carola, Daumer-Haas Cornelia, Meiner Annechristin, Steuernagel Peter, Roessler Erich, Winkler Juergen, Muenke Maximilian
Abstract excerpt
Schizencephaly (SCH) is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces. The SCH cleft is usually lined by gray matter, which appears polymicrogyric implying an associated impairment of neuronal migration. The majority of SCH patients are sporadic, but familial SCH has been...
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