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Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerate...
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| Autori principali: | , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Hindawi Publishing Corporation
2014
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3930135/ https://ncbi.nlm.nih.gov/pubmed/24639906 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/508231 |
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