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A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism |
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| Authors: | Toshihiro Tajima Makiko Oguma |
| Affiliation: | 1.Department of Pediatrics, Jichi Medical University, Shimotsuke-shi, Japan |
| Abstract: | |
| Keywords: | IGSF1 hypogonadotropic hypogonadism central hypothyroidism novel variant |