Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Abstract Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. Biopsied muscle studies de...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | article |
| Language: | EN |
| Published: |
Wiley
2021
|
| Subjects: | |
| Online Access: | https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765fa |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|