Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review
BackgroundCornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a patient with clinical scored ≥ 11 points could be diagnosed as CdLS. However, some variants in non-cohes...
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Frontiers Media S.A.,
2022-07-01T00:00:00Z.
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