title: Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.
authors.forename: Chayim Can
authors.initials: CC
authors.lastname: Schell-Apacik
authors.forename: Birgit
authors.initials: B
authors.lastname: Ertl-Wagner
authors.forename: Axel
authors.initials: A
authors.lastname: Panzel
authors.forename: Kerstin
authors.initials: K
authors.lastname: Klausener
authors.forename: Gisbert
authors.initials: G
authors.lastname: Rausch
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.forename: Hubertus
authors.initials: H
authors.lastname: von Voss
authors.forename: Ute
authors.initials: U
authors.lastname: Hehr
mesh_terms: D055673:Acrocallosal Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns / Q000502:physiology; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009035:Mothers; D011110:Polymorphism, Genetic
chemical_list: D053823:Hedgehog Proteins; C509239:SHH protein, human