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Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Reirradiation of recurrent head and neck cancers with curative intent.
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406.
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subject areas
Abnormalities, Multiple
Adolescent
Adult
Alopecia
Anal Canal
Cerebellar Diseases
Cerebellum
Child
Child, Preschool
Craniofacial Abnormalities
Esophagus
Female
Growth Disorders
Heart Defects, Congenital
Holoprosencephaly
Humans
Infant
Infant, Newborn
Kidney
Limb Deformities, Congenital
Male
Neurocutaneous Syndromes
Phenotype
Rhombencephalon
Spine
Trachea
Young Adult
authors with profiles
William B. Dobyns