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Article

A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo - 1 Jan 2024

Carvalho Adriana Amaral, Machado Renato Assis, Maia Célia Márcia Fernandes, Santos Luis Antônio Nogueira Dos, Martelli Daniella Reis Barbosa, Coletta Ricardo Della, Martelli Júnior Hercílio

Abstract excerpt

OBJECTIVE: To report the case of a girl presenting a severe phenotype of mandibuloacral dysplasia type A (MADA) characterized by prominent osteolytic changes and ectodermal defects, associated with a rare homozygous LMNA missense mutation (c.1579C>T). CASE DESCRIPTION: A 6-year-old girl was evaluated during hospitalization exhibiting the following dysmorphic signs: subtotal alopecia, dysmorphic facies with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38808865
DOI: 10.1590/1984-0462/2024/42/2022189
PMCID: PMC11135898

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.

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