Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review
IntroductionLenz-Majewski syndrome (LMS) is an ultra-rare congenital disorder with progressive skeletal dysplasia, cutis laxa, and intellectual disability, typically caused by pathogenic variants in the PTDSS1 gene.MethodsOur patient with multiple malformations and developmental delay who was treate...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1617541/full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|