Detalle Publicación


Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Autores: Infante, E.; Alkorta Aranburu, Gorka; El-Gharbawy, A.
Título de la revista: CLINICAL CASE REPORTS
ISSN: 2050-0904
Volumen: 5
Número: 8
Páginas: 1277 - 1283
Fecha de publicación: 2017
Key Clinical Message Clinical features are variable in patients with Cornelia de Lange syndrome (CdLS). Milder forms exist with structural maintenance of chromosomes 3 (SMC3) mutations. Inherited milder forms of CdLS are uncommon and may be missed if genetic testing is limited to Nipped-B-like protein (NIPBL) and SMC1A. Parental studies should be pursued if there is a history of learning disabilities and/or dysmorphic features.