Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review
BackgroundAlpha-thalassemia/intellectual disability syndrome (ATR-X) (OMIM # 301040) was first described by Wilkie et al. (1). Several studies found that children who presented with significantly consistent clinical phenotypes of hemoglobin H (Hb H) disease and profound mental handicap carried ATRX...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-04-01T00:00:00Z.
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