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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Detalhes bibliográficos
Main Authors: Bai, Shaochun, Lozada, Anthony, Jones, Marilyn C., Dietz, Harry C., Dempsey, Melissa, Das, Soma
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2014
Assuntos:
Case Report
Acesso em linha: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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