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

• 主要な著者: Bin Zuo (著者), Hongen Xu (著者), Zhaoyu Pan (著者), Lu Mao (著者), Haifeng Feng (著者), Beiping Zeng (著者), Wenxue Tang (著者), Wei Lu (著者)
• フォーマット: 図書
• 出版事項: BMC, 2022-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

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...