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

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-...

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Detalles Bibliográficos
Autores principales: Zuo, Bin, Xu, Hongen, Pan, Zhaoyu, Mao, Lu, Feng, Haifeng, Zeng, Beiping, Tang, Wenxue, Lu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9590123/
https://www.ncbi.nlm.nih.gov/pubmed/36280868
http://dx.doi.org/10.1186/s12920-022-01374-x

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