R4
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.
- Tak
- waihonapediaTopics.MoleculairDiagnosticCriteria
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- cdlsR4
- cdlsR4