Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
Clin Case Rep
; 5(8): 1277-1283, 2017 08.
Article
em En
| MEDLINE
| ID: mdl-28781842
ABSTRACT
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.
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Base de dados:
MEDLINE
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En
Ano de publicação:
2017
Tipo de documento:
Article