TY - JOUR
T1 - A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome
AU - Hamada, Junpei
AU - Ochi, Fumihiro
AU - Sei, Yuka
AU - Takemoto, Koji
AU - Hirai, Hiroki
AU - Honda, Misa
AU - Shibata, Hironori
AU - Hasegawa, Tomonobu
AU - Eguchi, Mariko
N1 - Funding Information:
Tomonobu Hasegawa has the following financial relationships to disclose: Research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd.
Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - 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.
AB - 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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U2 - 10.1038/s41439-020-00118-6
DO - 10.1038/s41439-020-00118-6
M3 - Article
AN - SCOPUS:85091717882
SN - 2054-345X
VL - 7
JO - Human Genome Variation
JF - Human Genome Variation
IS - 1
M1 - 30
ER -