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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...

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Hlavní autoři: Zehra Manav Yiğit, Mustafa Altan, Göksel Tuzcu, Gökay Bozkurt, Ahmet Anık
Médium: Artigo
Jazyk:Inglês
Vydáno: Pediatric Endocrinology and Diabetes Society 2026-03-01
Edice:JCRPE
Témata:
founder effect
lmna gene
mandibuloacral dysplasia type a
partial lipodystrophy
progeroid syndrome
On-line přístup: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
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