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Dobyns, William

One or more keywords matched the following items that are connected to Dobyns, William

Item Type	Name
Concept	Walker-Warburg Syndrome
Academic Article	Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Academic Article	Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Academic Article	Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Academic Article	Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Academic Article	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Academic Article	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Academic Article	COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
Academic Article	A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Academic Article	Diagnostic criteria for Walker-Warburg syndrome.
Academic Article	Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
Academic Article	Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation.

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Walker Warburg Syndrome