Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome
Tayfun Cinleti,
Gamze Sarıkaya Uzan,
Büşra Bürçe
et al.
Abstract:Warburg Micro syndrome is a rare autosomal recessive disease due to pathogenic variants found most commonly in the RAB3GAP1 gene. It is commonly seen in consanguineous marriages and is characterized by optic, neurologic, endocrinologic and some non-typical findings (cardiomyopathy, peripheral neuropathy). Here, we report two male patients from healthy consanguineous and non- consanguineous carrier parents, with homozygous variants of the RAB3GAP1 gene, presenting with bilateral congenital cataracts, hypogonadi… Show more
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