Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia
Background & objectives: ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not expres...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Indian Journal of Medical Research |
| Subjects: | |
| Online Access: | http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=1;spage=43;epage=48;aulast=Bouazzi |