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