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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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Hamada, Junpei, Ochi, Fumihiro, Sei, Yuka, Takemoto, Koji, Hirai, Hiroki, Honda, Misa, Shibata, Hironori, Hasegawa, Tomonobu, Eguchi, Mariko
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Data Report
Online adgang: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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