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ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME

Known as: MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MDPL 
National Institutes of Health

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16 relations
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
To the Editor: A 15-year-old girl from Chengdu (Sichuan province, China) came to our hospital in December 2019. Hermother stated… 
2018
2018
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
Segmental progeroid syndromes with lipodystrophy are extremely rare, heterogeneous, and complex multi-system disorders that are… 
2018
2018
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.
Mandibular hypoplasia, deafness, and progeroid features, with concomitant lipodystrophy, define a multisystem disorder named MDPL… 
2018
2018
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
Background. Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a recently recognized… 
2017
2017
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder… 
2014
2014
HMGB1 Localization during Experimental Periodontitis
Aim. This study sought to investigate the in vitro expression profile of high mobility group box 1 (HMGB1) in murine periodontal… 
2014
2014
Leakage Power Analysis attacks against a bit slice implementation of the Serpent block cipher
In this work the effectiveness of Leakage Power Analysis (LPA), a new class of side-channel attacks against cryptographic… 
2008
2008
Morphometric basis for orthomorphic correction of mandibular asymmetry.
2007
2007
[Recent progress in mycobacteriology].
Mycobacterium tuberculosis is one of the most successful bacterial parasites of humans, infecting over one-third of the… 
1984
1984
Induction of ornithine decarboxylase, RNA, and protein synthesis in macrophage cell lines stimulated by immunoadjuvants
Early biochemical changes associated with adjuvant stimulation of macrophage protein synthesis were studied using two murine… 
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