The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome is a rare autosomal dominant disorder caused by heterozygous POLD1 mutations. To date, 13 patients affected by POLD1 mutation-caused MDPL have been described. We report a clinically undiagnosed 11-year-old male who...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Okada, Asami, Kohmoto, Tomohiro, Naruto, Takuya, Yokota, Ichiro, Kotani, Yumiko, Shimada, Aki, Miyamoto, Yoko, Takahashi, Rizu, Goji, Aya, Masuda, Kiyoshi, Kagami, Shoji, Imoto, Issei
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540733/
https://ncbi.nlm.nih.gov/pubmed/28791128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.31
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