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

• Päätekijät: Bin Zuo (Tekijä), Hongen Xu (Tekijä), Zhaoyu Pan (Tekijä), Lu Mao (Tekijä), Haifeng Feng (Tekijä), Beiping Zeng (Tekijä), Wenxue Tang (Tekijä), Wei Lu (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2022-10-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...