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Article

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort

Journal of clinical research in pediatric endocrinology - 13 Mar 2026

Manav Yiğit Zehra, Altan Mustafa, Tuzcu Göksel, Bozkurt Gökay, Anık Ahmet

Abstract excerpt

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 Turkish cohort and explores its impact on phenotypic expressivity. Methods: We conducted a comprehensive analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40459373
DOI: 10.4274/jcrpe.galenos.2025.2025-3-27
PMCID: PMC12989892

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish CohortPMID 40459373Read ↗

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