Identification of a Hemizygous Novel Splicing Variant in ATRX Gene: A Case Report and Literature Review

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 profound mental handicap carried ATR...

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Detalles Bibliográficos
Autores principales: Cong, Yan, Wu, Jie, Wang, Hao, Wu, Ke, Huang, Cui, Yang, Xuejian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9015161/
https://www.ncbi.nlm.nih.gov/pubmed/35444965
http://dx.doi.org/10.3389/fped.2022.834087

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9015161/
https://www.ncbi.nlm.nih.gov/pubmed/35444965
http://dx.doi.org/10.3389/fped.2022.834087

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