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...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Book |
| Published: |
Frontiers Media S.A.,
2022-04-01T00:00:00Z.
|
| Subjects: | |
| Online Access: | Connect to this object online. |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
|---|---|
| Copy 1 | Available |