A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly

Clin Pediatr Endocrinol. 2023;32(1):79-81. doi: 10.1297/cpe.2022-0060. Epub 2022 Oct 7.

Noboru Uchida^{1

2}, Yusuke Mizuno^{1

2}, Shohei Seno³, Yutaro Koyama³, Tsutomu Takahashi¹, Hironori Shibata², Satoshi Narumi^{2

4}, Tomonobu Hasegawa², Tomohiro Ishii²

¹ Department of Pediatrics, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan.
² Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
³ Department of Cardiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
⁴ Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

No abstract available

Keywords: Kallmann syndrome; fibroblast growth factor receptor 1 (FGFR1); holoprosencephaly; novel variant.