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A compound heterozygosity of two haplotypes in the TTN gene contributes to risk for Cleft Lip and Palate in a recessive manner

2025-01-17 genetic and genomic medicine Title + abstract only
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Cleft lip and palate (CLP) are complex congenital anomalies with multifactorial etiology and significant genetic heterogeneity. This study aimed to elucidate the genetic basis of nonsyndromic CLP in an Indian family, wherein phenotypically normal parents had three affected offspring, including monozygotic twins, all presenting with bilateral complete CLP. Whole exome sequencing (WES) identified a compound heterozygous haplotype in the TTN gene shared by all affected siblings. The paternal haplot...

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