Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
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The Thymus/Neocortex Hypothesis of the Brain: A Cell Basis for Recognition and Instruction of Self.Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.Lissencephaly: Expanded imaging and clinical classification.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityComprehensive genotype-phenotype correlation in lissencephaly
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Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 18 October 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
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Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
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Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
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Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
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Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
@en
Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
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Mutations in CRADD Result in R ...... a Rare Lissencephaly Variant.
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P2093
Agnieszka M Czaja
Alison B Shupp
Amy Goldstein
Anke Nissen
Briana D Krewson
Carissa Olds
Carol M Troy
Deborah Bartholdi
Erik G Puffenberger
Ghayda M Mirzaa
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P304
P356
10.1016/J.AJHG.2016.09.010
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P577
2016-10-18T00:00:00Z