Article
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.
Journal of medical genetics - 1 Apr 2022
Drissi Ichrak, Fletcher Emily, Shaheen Ranad, Nahorski Michael, Alhashem Amal M, Lisgo Steve, Fernández-Jaén Alberto, Schon Katherine, Tlili-Graiess Kalthoum, Smithson Sarah F, Lindsay Susan, J Sharpe Hayley, Alkuraya Fowzan S, Woods Geoff
Abstract excerpt
BACKGROUND: Holoprosencephaly is a spectrum of developmental disorder of the embryonic forebrain in which there is failed or incomplete separation of the prosencephalon into two cerebral hemispheres. To date, dominant mutations in sonic hedgehog (SHH) pathway genes are the predominant Mendelian causes, and have marked interfamilial and intrafamilial phenotypical variabilities. METHODS: We describe two families in...
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