Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.

American journal of medical genetics. Part A - 1 Nov 2010

Ahmad Zahid, Zackai Elaine, Medne Livija, Garg Abhimanyu

Abstract excerpt

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by hypoplasia of the mandible and clavicles, acro-osteolysis, and lipodystrophy due to mutations in LMNA or ZMPSTE24. Only six MAD patients are reported so far with ZMPSTE24 mutations and limited phenotypic data are available for them. Here, we report on two brothers (4 years and 9-month old) with early onset MAD due to ZMPSTE24...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to Heterozygote
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lamin Type A

Share to Lipodystrophy

Share to Mandible

Share to Membrane Proteins

Share to Metalloendopeptidases

Source

Open in PubMed Open full text

Identifiers

PMID: 20814950
DOI: 10.1002/ajmg.a.33664
PMCID: PMC2965306

Genes

ZMPSTE24
LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.PMID 20814950Read ↗

Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.Semantic proximity Read ↗

Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene.Semantic proximity Read ↗

Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24.Semantic proximity Read ↗

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.Semantic proximity Read ↗

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.Semantic proximity Read ↗

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.Semantic proximity Read ↗

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Semantic proximity Read ↗

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.Semantic proximity Read ↗

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.Semantic proximity Read ↗

Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.