Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Toyofumi Majikina"'
Autor:
Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an alr
Externí odkaz:
https://doaj.org/article/dbb7033bf20a44019ffd1d61439e6033
Autor:
Hiroaki Masuzaki, Akiko Takushi, Misa Honda, Toyofumi Majikina, Tomonobu Hasegawa, Nami Morishima, Akiko Zaha, Michio Shimabukuro, Takeshi Touma, Moritake Higa
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e2f791ac080c80eb714ce65ceba9fb
https://doi.org/10.1038/s41439-021-00138-w
https://doi.org/10.1038/s41439-021-00138-w
Autor:
Higa, Moritake, Zaha, Akiko, Takushi, Akiko, Morishima, Nami, Majikina, Toyofumi, Touma, Takeshi, Shimabukuro, Michio, Masuzaki, Hiroaki, Honda, Misa, Hasegawa, Tomonobu
Publikováno v:
Human Genome Variation; 2/3/2021, Vol. 8 Issue 1, p1-4, 4p
Autor:
Yamaguchi, Satoshi1,2 (AUTHOR) mshimabukuro-ur@umin.ac.jp, Oba, Kageyuki3 (AUTHOR) koba@yuuai.or.jp, Higa, Moritake4 (AUTHOR) himoritake@yuuai.or.jp, Arasaki, Osamu3 (AUTHOR) oarasaki@yuuai.or.jp, Shimabukuro, Michio1 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Jun2020, Vol. 9 Issue 6, p1675. 1p.