Literature DB >> 19444090

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.

Aleksandra Jezela-Stanek1, Chris Fisher, Maria Szarras-Czapnik, Dorota Olczak-Kowalczyk, Richard J Gibbons, Jolanta Słowikowska-Hilczer, Małgorzata Krajewska-Walasek.   

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Year:  2009        PMID： 19444090     DOI： 10.1097/MCD.0b013e32832a9ea5

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Authors:  Seema Thakur; Mala Ishrie; Renu Saxena; Sumita Danda; Rose Linda; Auro Viswabandya; I C Verma
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

2.  ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

Authors:  S Moncini; M F Bedeschi; P Castronovo; M Crippa; M Calvello; R R Garghentino; G Scuvera; P Finelli; M Venturin
Journal:  Meta Gene       Date:  2013-10-29
  2 in total

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