Neurobehavioral and developmental profiles: genotype–phenotype correlations in individuals with Cornelia de Lange syndrome

Abstract Background Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype–phenotype associations in individuals with CdLS is extremely limited, although studies...

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Autors principals:	Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2024-03-01
Col·lecció:	Orphanet Journal of Rare Diseases
Matèries:	Genetics/genetic disorders NIPBL SMC1A Cornelia de Lange syndrome Development Behavior functioning
Accés en línia:	https://doi.org/10.1186/s13023-024-03104-1
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