Splicing mutation in the ATR-X gene can lead to a dysmorphic ...
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=19...
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Tests Available
MR/Alpha-thalassemia (Xq13, 16p13.3). MR-Brachydactyly Syndrome (2q37.3). MR, X- linked 21 (MRX21) (Xp21.3). Mucopolysaccharidosis, type II (Hunter syndrome) ...
http://www.unmc.edu/dept/geneticslab/index.cfm?L1_ID=1&CONRE...
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Alpha thalassaemia-mental retardation, X linked
All affected males had moderate MR and exhibited expressive language delay, ..... Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=14...
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PubMed Result
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred ... Otto PA, Passos-Bueno MR, Zatz M. Absence of correlation between skewed X
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http://www.ncbi.nlm.nih.gov/pubmed/1415255,7726227,8826445,1...
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disordertablev6-1.qxd (Page 1)
X-linked lymphoproliferative syndrome (XLP); Xq25 deletion. New. Loci for which deletions would be expected to give phenotypes. Alpha thalassemia MR, mental ...
http://www.bcm.edu/geneticlabs/cma/tables/disordertableV6.pd...
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Table S1 – Detailed list of 98 X-linked syndromes with MR and ...
... just like the alpha-thalassemia mental retardation syndrome). ..... [19] Hall BD, Robl JM (1999) New X-linked MR/MCA syndrome associated with cleft ...
http://www.nature.com/ejhg/journal/v16/n4/extref/5201994x1.d...
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A Unique Form of Mental Retardation with a Distinctive Phenotype ...
X-linked alpha-thalassemia MR syndrome (ATR-X [MIM 300032]) (Gibbons et al. 1991 , 1995) is unlikely in this family, since none of the affected males are ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=12...
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Expanding phenotype of XNP mutations: mild to mode...[Am J Med ...
Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with
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http://view.ncbi.nlm.nih.gov/pubmed/12116232...
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A newly defined X linked mental retardation syndrome associated ...
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet. ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=10...
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Splicing mutation in the ATR-X gene can lead to a dysmorphic ...
Splicing mutation in the ATR-X gene can lead to a dysmorphic mental ... involved in the X-linked alpha-thalassemia with mental retardation (ATR-X) syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/8644709...
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