Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa

研究成果: Article査読

抄録

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 reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.

本文言語English
論文番号6
ジャーナルHuman Genome Variation
8
1
DOI
出版ステータスPublished - 2021 12

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学

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