A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

Location
Deutsche Nationalbibliothek Frankfurt am Main
ISSN
1755-8794
Extent
Online-Ressource
Language
Englisch
Notes
online resource.

Bibliographic citation
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient ; volume:15 ; number:1 ; day:21 ; month:10 ; year:2022 ; pages:1-8 ; date:12.2022
BMC medical genomics ; 15, Heft 1 (21.10.2022), 1-8, 12.2022

Creator
Zuo, Bin
Xu, Hongen
Pan, Zhaoyu
Mao, Lu
Feng, Haifeng
Zeng, Beiping
Tang, Wenxue
Lu, Wei
Contributor
SpringerLink (Online service)

DOI
10.1186/s12920-022-01374-x
URN
urn:nbn:de:101:1-2023010809011582568700
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:23 AM CEST

Data provider

This object is provided by:
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Associated

  • Zuo, Bin
  • Xu, Hongen
  • Pan, Zhaoyu
  • Mao, Lu
  • Feng, Haifeng
  • Zeng, Beiping
  • Tang, Wenxue
  • Lu, Wei
  • SpringerLink (Online service)

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