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A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
De Falco A, De Brasi D, Della Monica M, Cesario C, Petrocchi S, Novelli A, D'Alterio G, Iolascon A, Capasso M, Piscopo C. De Falco A, et al. Genes (Basel). 2023 Jan 1;14(1):119. doi: 10.3390/genes14010119. Genes (Basel). 2023. PMID: 36672860 Free PMC article.
The index patient presented with clinical characteristics previously associated with CdLS type 4 (short nose, thick eyebrow, global development delay, synophrys, microcephaly, weight < 2DS, small hands, height < 2DS). ...
The index patient presented with clinical characteristics previously associated with CdLS type 4 (short nose, thick eyebrow, g …