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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Hlavní autoři:	Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-03-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Genetics/genetic disorders NIPBL SMC1A Cornelia de Lange syndrome Development Behavior functioning
On-line přístup:	https://doi.org/10.1186/s13023-024-03104-1
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