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Article

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).

Clinical genetics - 1 Feb 2007

Lanktree M, Cao H, Rabkin S W, Hanna A, Hegele R A

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Lipodystrophy, Familial Partial

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Source

Identifiers

PMID: 17250669
DOI: 10.1111/j.1399-0004.2007.00740.x

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).PMID 17250669Read ↗

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.Semantic proximity Read ↗

The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.Semantic proximity Read ↗

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.Semantic proximity Read ↗

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.Semantic proximity Read ↗

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.Semantic proximity Read ↗

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.Semantic proximity Read ↗

Advances in lipodystrophy syndrome caused by LMNA gene mutation.Semantic proximity Read ↗

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.Semantic proximity Read ↗

A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.Semantic proximity Read ↗

A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.Semantic proximity Read ↗

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.Semantic proximity Read ↗

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.Semantic proximity Read ↗

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