Geun-Young Park Dae-Hyun Jang Dong-Woo Lee Ja-Hyun Jang Joungsu Joo
10.3389/fgene.2019.01085
Front Genet
2019 Oct 31;10:1085.
consanguineous marriage frameshift mutation hereditary sensory and autonomic neuropathy homozygous uniparental isodisomy
CC BY
https://pubmed.ncbi.nlm.nih.gov/31737055/
Case Reports
PMC6837162
31737055
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
2019