论文信息 - Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome - 字舞流文

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

K. Yoshiura | G. Nishimura | A. Kinoshita | H. Moriuchi | H. Mishima | Satoshi Watanabe | S. Dateki | Hitomi Shimizu