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Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores

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Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability.… Click to show full abstract

Nonsyndromic cleft lip with/without cleft palate (nsCL/P) is a congenital malformation of multifactorial etiology. Research has identified >40 genome‐wide significant risk loci, which explain less than 40% of nsCL/P heritability. Studies show that some of the hidden heritability is explained by rare penetrant variants.

Keywords: cleft palate; nonsyndromic cleft; cleft lip; without cleft; lip without; cleft

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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