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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540733/
https://www.ncbi.nlm.nih.gov/pubmed/28791128
http://dx.doi.org/10.1038/hgv.2017.31

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540733/
https://www.ncbi.nlm.nih.gov/pubmed/28791128
http://dx.doi.org/10.1038/hgv.2017.31

Ejemplares similares