| Literature DB >> 33419966 |
Junpei Hamada1, Fumihiro Ochi2, Yuka Sei2, Koji Takemoto3, Hiroki Hirai4, Misa Honda5, Hironori Shibata5, Tomonobu Hasegawa5, Mariko Eguchi2.
Abstract
We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl, presented with bilateral iris depigmentation, bilateral sensorineural hearing loss, Hirschsprung disease, hypogonadotropic hypogonadism, and anosmia. We identified a novel SOX10 variant, c.124delC, p.Leu42Cysfs*67.Year: 2020 PMID： 33419966 DOI： 10.1038/s41439-020-00118-6
Source DB: PubMed Journal: Hum Genome Var ISSN： 2054-345X