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Partial duplications of the ATRX gene cause the ATR-X syndrome

✍ Scribed by Thienpont, Bernard; de Ravel, Thomy; Van Esch, Hilde; Van Schoubroeck, Dominique; Moerman, Philippe; Vermeesch, Joris Robert; Fryns, Jean-Pierre; Froyen, Guy; Lacoste, Caroline; Badens, Catherine

Book ID
110027078
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
140 KB
Volume
15
Category
Article
ISSN
1018-4813

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Molecular defects affecting the ATRX gene lead to the ATRX syndrome (alpha thalassemia/mental retardation syndrome, X-linked), characterized by severe mental retardation, microcephaly, distinct facial dysmorphism, and genital abnormalities, as well as a wide spectrum of other pathological features.