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Early Onset Mandibuloacral Dysplasia due to Compound Heterozygous Mutations in ZMPSTE24

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 avail...

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Autori principali: Ahmad, Zahid, Zackai, Elaine, Medne, Livija, Garg, Abhimanyu
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2965306/
https://ncbi.nlm.nih.gov/pubmed/20814950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33664
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