An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL
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CNLS is a multisystemic malformative syndrome caused by variants in genes of the cohesin complex, with the most common form due to variants in NIPBL. Phenotype is variable, but facial dysmorphisms and skeletal anomalies represent the most common expressions of... ...
