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  • Title: ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
    Author: Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC.
    Journal: Indian J Med Res; 2011 Oct; 134(4):483-6. PubMed ID: 22089611.
    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.
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