Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
Mol Syndromol
; 8(6): 308-312, 2017 Nov.
Article
em En
| MEDLINE
| ID: mdl-29230160
ABSTRACT
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identified a de novo AHDC1 frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents. Furthermore, we summarized the phenotypes of patients reported in the literature.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
País/Região como assunto:
America do sul
/
Colombia
Idioma:
En
Revista:
Mol Syndromol
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Colômbia