Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review
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DOI: 10.3389/fped.2022.834087
Abstract: Background Alpha-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… read more here.
Keywords: intellectual disability; atrx gene; variant atrx; case ... See more keywords