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.
Schell-Apacik
Chayim Can
CC
Ertl-Wagner
Birgit
B
Panzel
Axel
A
Klausener
Kerstin
K
Rausch
Gisbert
G
Muenke
Maximilian
M
von Voss
Hubertus
H
Hehr
Ute
U
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
D053823:Hedgehog Proteins; C509239:SHH protein, human