Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel <i>RETREG1</i> Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5.

Park, Geun-Young; Jang, Dae-Hyun; Lee, Dong-Woo; Jang, Ja-Hyun; Joo, Joungsu.

Afiliação

Park GY; Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Jang DH; Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Lee DW; Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Jang JH; Green Cross Genome, Yongin, South Korea.
Joo J; EONE-DIAGNOMICS Genome Center, Incheon, South Korea.

Front Genet ; 10: 1085, 2019.

Article em En | MEDLINE | ID: mdl-31737055