R4
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange Syndrome.
R4: Classic CdLS is usually caused by variants in NIPBL; however, variants in one of six other genes —SMC1A, SMC3, RAD21, BRD4, HDAC8 or ANKRD11 — should be considered, as they may lead to a similar phenotype.
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