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

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

Abstract Background Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL; OMIM# 615381) is a rare autosomal dominant disorder, with only a few reported cases worldwide. Herein, we describe the clinical features and underlying molecular etiology of MDPL syndrome in an...

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Bibliographic Details
Main Authors: Bin Zuo, Hongen Xu, Zhaoyu Pan, Lu Mao, Haifeng Feng, Beiping Zeng, Wenxue Tang, Wei Lu
Format: Article
Language:English
Published: BMC 2022-10-01
Series:BMC Medical Genomics
Subjects:
Mandibular hypoplasia, progeroid features, and lipodystrophy syndrome
MDPL
Sensorineural hearing loss
POLD1
Online Access:https://doi.org/10.1186/s12920-022-01374-x

Internet

https://doi.org/10.1186/s12920-022-01374-x

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