A novel frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.
作者信息
Kimura-Yoshida Ayano, Sato Takeshi, Ichihashi Yosuke, Wasa Masanori, Narumi Satoshi, Ishii Tomohiro, Hasegawa Tomonobu
机构信息
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Division of Neonatal Intensive Care, Tokyo Women's Medical University, Adachi Medical Center, Tokyo, Japan.
出版信息
Clin Pediatr Endocrinol. 2024 Oct;33(4):244-248. doi: 10.1297/cpe.2024-0013. Epub 2024 Aug 19.
Abstract
摘要
Zotero 插件