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Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
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Deficiency of chromosome 8p21.1----8pter: case report and review of the literature.
Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet. 1985 Sep; 22(1):125-34.
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PubMed
subject areas
Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, 6-12 and X
Erythrocytes
Face
Glutathione Reductase
Growth Disorders
Heart Defects, Congenital
Humans
Infant
Male
Syndrome
authors with profiles
William B. Dobyns