Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Akiko Takushi"'
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