A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome

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...

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書誌詳細
出版年:Hum Genome Var
主要な著者: Hamada, Junpei, Ochi, Fumihiro, Sei, Yuka, Takemoto, Koji, Hirai, Hiroki, Honda, Misa, Shibata, Hironori, Hasegawa, Tomonobu, Eguchi, Mariko
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2020
主題:
Data Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7522263/
https://ncbi.nlm.nih.gov/pubmed/33082981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00118-6
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