Shigeru Sato Takeshi Morimoto Kikuko Hotta Takashi Fujikado Kohji Nishida
10.1038/s41439-019-0045-y
Hum Genome Var
2019 Mar 12;6:14.
CC BY
https://pubmed.ncbi.nlm.nih.gov/30886724/
Case Reports
PMC6418288
30886724
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
2019