Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Sign Up to like & getrecommendations! Published in 2019 at "Neuropediatrics"
DOI: 10.1055/s-0039-1692141
Abstract: The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related to a wide spectrum of clinical manifestations, such as alpha thalassemia, developmental delay, genital… read more here.
Keywords: atrx gene; epileptic encephalopathy; atr syndrome; myoclonus dystonia ... See more keywords
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