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7
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"Lissencephaly," Recessive
- ... PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN ... Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal ... Citation on PubMed
- ... PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN ...
- ... of the brain. This leads to the cobblestone lissencephaly seen in children with Fukuyama congenital muscular ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... condition typically have a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks ... that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. Less is ...
- Brain Malformations (National Library of Medicine)Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's ...
- ... PRIMARY, 12; CILD12 CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 CILIARY DYSKINESIA, PRIMARY, 46; CILD46 CILIARY DYSKINESIA, ...
- ... neuronal migration causes a brain abnormality called cobblestone lissencephaly, in which the surface of the brain lacks ... Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental ...