Developmental Expression of the Sturge-Weber Syndrome-associated Genetic Mutation in Gnaq: a Formal Test of Happle's Paradominant Inheritance Hypothesis.
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DOI: 10.1093/genetics/iyad077
Abstract: Sturge-Weber Syndrome (SWS) is a sporadic (non-inherited) syndrome characterized by capillary vascular malformations in the facial skin, leptomeninges, or the choroid. A hallmark feature is the mosaic nature of the phenotype. SWS is caused by… read more here.
Keywords: paradominant inheritance; sws; expression; happle ... See more keywords