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Mandibuloacral dysplasia

Mandibuloacral dysostosis
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Mandibuloacral dysplasia" returned 1 free, full-text review articles. First 1 results:
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.
Last Updated: Aug 05, 2019

Mandibuloacral dysplasia (MAD) is a rare genetic condition characterized by bone abnormalities including localized osteolysis and generalized osteoporosis, skin pigmentation, lipodystrophic signs and mildly accelerated ageing. The molecular defects associated with MAD are mutations ...

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
Last Updated: Nov 24, 2016

Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, lipodystrophy, and mottled cutaneous pigmentation. MAD ...

A severe case of mandibuloacral dysplasia in a girl.
Last Updated: Nov 16, 2005

We report on a 16-year-old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges ...

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1 Free Review Articles 3 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Mandibuloacral dysplasia" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Mandibuloacral dysplasia" returned 14 free, full-text research articles. First few results:
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Last Updated: Sep 04, 2018

Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification ...

Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.
Last Updated: Feb 06, 2017

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, ...

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A.
Last Updated: Dec 26, 2015

Mandibuloacral dysplasia with type A lipodystrophy (MADA) is a rare genetic disorder inherited in an autosomal recessive fashion characterized by hypoplasia of the mandible and clavicles, acroosteolysis and lipodystrophy due to mutations in the LMNA or ZMPSTE24 genes. In the current ...

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14 Free Research Articles 45 Research Articles