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

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Published in Hum Genome Var on August 03, 2017

Authors

Asami Okada1, Tomohiro Kohmoto2, Takuya Naruto2, Ichiro Yokota1,3, Yumiko Kotani1, Aki Shimada3,4, Yoko Miyamoto2, Rizu Takahashi2, Aya Goji1, Kiyoshi Masuda2, Shoji Kagami1, Issei Imoto2

Author Affiliations

1: Department of Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
2: Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
3: Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Zentsuji, Japan.
4: Department of Otolaryngology, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.

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