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mental retardation-hypotonic facies syndrome, x-linked
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ATRX
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis
Altered telomeres in tumors with ATRX and DAXX mutations
Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma
Daxx is an H3.3-specific histone chaperone and cooperates with ATRX in replication-independent chromatin assembly at telomeres
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ATRX
Somatic tumors
pancreatic neuroendocrine tumours, paediatric GBM
Tumor types germline
Cancer Syndrom
Translocation partner
Name
alpha thalassemia/mental retardation syndrome X-linked
Chromosome banding
Xq21.1
Cancer molecular gen.
Rec
Mutation type
Mis, F, N
Other syndrome disease
ATR-X (alpha thalassemia/mental retardation) syndrome
Definition
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