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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Consanguinity
Academic Article New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
Academic Article The molecular landscape of ASPM mutations in primary microcephaly.
Academic Article Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
Academic Article STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
Academic Article Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Academic Article Congenital muscular dystrophies: clinical review and proposed classification.
Academic Article Cobblestone lissencephaly with normal eyes and muscle.
Academic Article Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.
Academic Article Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families.
Academic Article The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
Academic Article Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.
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  • Consanguinity