Article
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.
BMC medical genomics - 21 Oct 2022
Zuo Bin, Xu Hongen, Pan Zhaoyu, Mao Lu, Feng Haifeng, Zeng Beiping, Tang Wenxue, Lu Wei
Abstract excerpt
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 8-year-old Chinese patient. METHODS: We performed otological, endocrine, ultrasound, and radiological examinations, as well...
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