Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly.

Christopher Geoffrey WoodsEmily FletcherRanad ShaheenMichael NahorskiAmal M AlhashemSteven N Lisgo Alberto Fernández JaénKatherine SchonKalthoum Tlili-GraiessSarah F SmithsonSusan LindsayHayley J SharpeFowzan Sami Alkuraya

Published in: Journal of medical genetics (2021)

Our data support the contention that PLCH1 has a role in prenatal mammalian neurodevelopment, and deleterious variants cause a clinically variable holoprosencephaly spectrum phenotype.

Keyphrases

pregnant women
electronic health record
copy number
big data
machine learning
dna methylation
gene expression