Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.
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DOI: 10.1055/s-0039-1693664
Abstract: Pathogenic variants in the TRAPPC6B gene were recently found to be associated in three consanguineous families, with microcephaly, epilepsy, and brain malformations. Here, we report on a 3.5-year-old boy, born to consanguineous Lebanese parents, who… read more here.
Keywords: report new; family review; delineation trappc6b; disorder report ... See more keywords