POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features-Reference-Cited by-同舟云学术

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features

Published:2020-01-30 Issue:5 Volume:41 Page:913-920
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Oh Doo‐Yi¹^ORCID,Matsumoto Yoshihiro²³,Kitajiri Shin‐ichiro⁴,Kim Nayoung K.D.⁵,Kim Min Young¹,Kim Ah Reum⁶,Lee Mingyu⁷⁸,Lee Chung⁵⁹,Tomkinson Alan E.²,Katsuno Tatsuya⁴,Kim So Young⁶,Shin Hyun‐Woo⁶⁷⁸,Han Jin Hee¹,Lee Seungmin¹,Park Woong‐Yang⁵¹⁰,Choi Byung Yoon¹^ORCID

Affiliation:

1. Department of OtorhinolaryngologySeoul National University Bundang HospitalSeongnam Korea

2. Departments of Internal Medicine and Molecular Genetics and Microbiology, and University of New Mexico Cancer CenterUniversity of New MexicoAlbuquerque New Mexico

3. Department of Environmental BiologyChubu University College of Bioscience and BiotechnologyKasugai Aichi Japan

4. Department of Otolaryngology‐Head and Neck SurgeryKyoto University Graduate School of MedicineKyoto Japan

5. Samsung Genome InstituteSamsung Medical CenterSeoul Korea

6. Department of Otorhinolaryngology, Seoul National University Hospital, College of MedicineSeoul National UniversitySeoul Korea

7. Department of PharmacologySeoul National University College of MedicineSeoul Korea

8. Department of Biomedical SciencesSeoul National University Graduate SchoolSeoul Korea

9. Department of Health Sciences and TechnologySamsung Advanced Institute for Health Sciences and TechnologySeoul Korea

10. Department of Molecular Cell Biology, School of MedicineSungkyunkwan UniversitySeoul Korea

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23984

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4. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

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