TY  - GEN
AU  - Shima,Hirohito
AU  - Ishii,Akira
AU  - Wada,Yasunori
AU  - Kizawa,Junya
AU  - Yokoi,Tadashi
AU  - Azuma,Noriyuki
AU  - Matsubara,Yoichi
AU  - Suzuki,Erina
AU  - Nakamura,Akie
AU  - Narumi,Satoshi
AU  - Fukami,Maki
TI  - SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism
SN  - 1348-4540
PY  - 2018///0511
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - Humans
KW  - Hypogonadism
KW  - genetics
KW  - Male
KW  - Phenotype
KW  - SOXB1 Transcription Factors
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1507/endocrj.EJ17-0078
ER  -