A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.
Ene Choo TanShi Yun ChiaKhadijah Rafi'eeShan Xian LeeAndrew Boon Eu KwekSze Hwa TanVictor Weng Leong NgHeming WeiStephanie KooAi Ling KohMark Jean-Aan KohPublished in: Molecular genetics & genomic medicine (2021)
We uncovered a novel frameshift variant associated with presentations that cast a new light on the clinical features of CHILD syndrome.
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