ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
Artigo
em Inglês
| IMSEAR
| ID: sea-136348
ABSTRACT
ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which include microcephaly, frontal hair upsweep, epicanthic folds, small triangular nose, midface hypoplasia and carp-shaped mouth. Here we report two brothers with clinical features of ATR-X syndrome, in whom a novel missense (C>T) mutation was identified in exon 31 of the ATRX gene.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Proteínas Nucleares
/
Éxons
/
Talassemia alfa
/
DNA Helicases
/
Mutação de Sentido Incorreto
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Irmãos
/
Lactente
Idioma:
Inglês
Ano de publicação:
2011
Tipo de documento:
Artigo
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