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