Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort
Objective: Mandibuloacral dysplasia (MAD) is a rare genetic disorder characterized by distinctive skeletal abnormalities, metabolic issues, and skin changes, often linked to pathogenic variants in the LMNA gene, which encodes lamin A/C. This study investigates a specific founder mutation within a Tu...
Збережено в:
| Автори: | , , , , |
|---|---|
| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Pediatric Endocrinology and Diabetes Society
2026-03-01
|
| Серія: | JCRPE |
| Предмети: | |
| Онлайн доступ: | https://www.jcrpe.org/articles/founder-pathogenic-variant-in-lessemgreaterlmnalessemgreater-with-diverse-phenotypic-manifestations-in-mandibuloacral-dysplasia-insights-from-a-turkish-cohort/doi/jcrpe.galenos.2025.2025-3-27 |
| Теги: |
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|