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Article

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

American journal of medical genetics. Part A - 1 Jun 2023

Conti Beatrice, Rinaldi Berardo, Rimoldi Martina, Villa Roberta, Iascone Maria, Gangi Silvana, Porro Matteo, Ajmone Paola Francesca, Colli Anna Maria, Mosca Fabio, Bedeschi Maria Francesca

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital neurodevelopmental disorder (NDD) characterized by distinctive facial anomalies, short stature, developmental delay, hirsutism, gastrointestinal abnormalities and upper limb reduction defects. CdLS syndrome is associated with causative variants in genes encoding for the cohesin complex, a cellular machinery involved in chromatid pairing, DNA...

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PMID: 36843271
DOI: 10.1002/ajmg.a.63164

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