Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.

Citation:
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, …….. Baynam G, Bird LM, Bruegger D, et al. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms. Am J Med Genet Part A. 2023

Keywords:
CdLS; Cornelia de Lange Syndrome; HDAC8; NIPBL; RAD21; SMC1A; SMC3; cohesin; genome; transcription

Abstract:
Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.