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A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Human Genome Variation 2020 September 29
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.
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