A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

Context: Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes. Objective: The objective of the study was to report a novel s...

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Main Authors: Shastry, Savitha, Simha, Vinaya, Godbole, Koumudi, Sbraccia, Paolo, Melancon, Serge, Yajnik, Chittaranjan S., Novelli, Giuseppe, Kroiss, Matthias, Garg, Abhimanyu
Format: Artigo
Language:Inglês
Published: The Endocrine Society 2010
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3050107/
https://ncbi.nlm.nih.gov/pubmed/20631028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-0419
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