Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
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DOI: 10.1002/bdr2.1070
Abstract: BACKGROUND Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the… read more here.
Keywords: cdls patients; lange syndrome; treatment; acid signaling ... See more keywords