ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Male
/
Nuclear Proteins
/
Exons
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Alpha-Thalassemia
/
DNA Helicases
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Mutation, Missense
/
Mental Retardation, X-Linked
/
Siblings
/
Infant
Language:
English
Year:
2011
Type:
Article
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