2020年12月
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
Human Genome Variation
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- 巻
- 7
- 号
- 1
- 記述言語
- 掲載種別
- 研究論文（学術雑誌）
- DOI
- 10.1038/s41439-020-00118-6
- 出版者・発行元
- Springer Science and Business Media {LLC}
<title>Abstract</title>
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 <italic>SOX10</italic> variant, c.124delC, p.Leu42Cysfs*67.
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 <italic>SOX10</italic> variant, c.124delC, p.Leu42Cysfs*67.
- リンク情報
- ID情報
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- DOI : 10.1038/s41439-020-00118-6
- eISSN : 2054-345X
- ORCIDのPut Code : 81140544