Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family.
Wahid UllahMuhammad IlyasMuhammad TariqMaria ImdadIkram UllahStephanie EfthymiouMuhammad FaheemMuhammad Abbasnull nullMuhammad AamirMuhammad NoumanHenry HouldenPublished in: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience (2023)
Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.
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