Article
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.
Molecular genetics & genomic medicine - 1 Aug 2020
Thompson Wayne, Carey Patrick Z, Donald Tyhiesia, Nelson Beverly, Bhoj Elizabeth J, Li Dong, Hakonarson Hakon, Ramirez Maricela, Elsea Sarah H, Smith Janice L, Carey John C, Sobering Andrew K
Abstract excerpt
BACKGROUND: Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within the same family. METHODS: Exome sequencing and confirmatory Sanger sequencing showed the same previously described p.Arg629Ter NIPBL variant in two half-brothers affected...
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