ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Humains
/
Mâle
/
Protéines nucléaires
/
Exons
/
Alpha-Thalassémie
/
Helicase
/
Mutation faux-sens
/
Retard mental lié à l'X
/
Fratrie
/
Nourrisson
langue:
Anglais
Année:
2011
Type:
Article
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