Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation

Context: Mandibuloacral dysplasia (MAD) is a rare autosomal recessive progeroid syndrome due to mutations in genes encoding nuclear lamina proteins, lamins A/C (LMNA) or prelamin A processing enzyme, and zinc metalloproteinase (ZMPSTE24). Objective: The aim of the study was to investigate the underl...

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Autores principales: Agarwal, Anil K., Kazachkova, Irina, Ten, Svetlana, Garg, Abhimanyu
Formato: Artigo
Lenguaje:Inglês
Publicado: The Endocrine Society 2008
Materias:
Clinical Case Seminar
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2626450/
https://ncbi.nlm.nih.gov/pubmed/18796515
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2008-0123
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