ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Humanos
/
Masculino
/
Proteínas Nucleares
/
Exones
/
Talasemia alfa
/
ADN Helicasas
/
Mutación Missense
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Hermanos
/
Lactante
Idioma:
Inglés
Año:
2011
Tipo del documento:
Artículo
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