A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection

Detalles Bibliográficos
Autores principales: Wang, Xiu-Wen, Lu, Ling-Yun, Xie, Ying, Yu, Xi-Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462222/
https://www.ncbi.nlm.nih.gov/pubmed/32826474
http://dx.doi.org/10.1097/CM9.0000000000000986
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author Wang, Xiu-Wen
Lu, Ling-Yun
Xie, Ying
Yu, Xi-Jie
author_facet Wang, Xiu-Wen
Lu, Ling-Yun
Xie, Ying
Yu, Xi-Jie
author_sort Wang, Xiu-Wen
collection PubMed
description
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spelling pubmed-74622222020-09-16 A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection Wang, Xiu-Wen Lu, Ling-Yun Xie, Ying Yu, Xi-Jie Chin Med J (Engl) Correspondence Lippincott Williams & Wilkins 2020-08-20 2020-08-20 /pmc/articles/PMC7462222/ /pubmed/32826474 http://dx.doi.org/10.1097/CM9.0000000000000986 Text en Copyright © 2020 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0
spellingShingle Correspondence
Wang, Xiu-Wen
Lu, Ling-Yun
Xie, Ying
Yu, Xi-Jie
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
title A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
title_full A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
title_fullStr A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
title_full_unstemmed A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
title_short A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection
title_sort chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (mdpl) diagnosed via pold1 mutation detection
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462222/
https://www.ncbi.nlm.nih.gov/pubmed/32826474
http://dx.doi.org/10.1097/CM9.0000000000000986
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