New heritable ATRX mutation identified by whole exome sequencing and review

New heritable ATRX mutation identified by whole exome sequencing and review

Abstract Background The mutations in the ATRX gene have been shown to cause two types of disorders: inherited mutations lead to alpha thalassemia X-linked mental retardation (ATR-X) syndrome and acquired somatic mutations cause alpha thalassemia myelodysplastic syndrome (ATMDS). Here we report a cas...

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Bibliographic Details
Main Authors: Zahra Shahbazi, Golaleh Rostami, Mohammad Hamid
Format: Article
Language:English
Published: SpringerOpen 2022-02-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Alpha-thalassemia
ATR-X syndrome
Myelodysplastic syndrome
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s43042-022-00227-7

Internet

https://doi.org/10.1186/s43042-022-00227-7

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