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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | 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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