Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome
Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5 years of age was admitted to the Pediatric He...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Book |
| Published: |
Frontiers Media S.A.,
2021-03-01T00:00:00Z.
|
| 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 |