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pro vyhledávání: '"Yuka Sei"'
Autor:
Fumihiro Ochi, Tomonobu Hasegawa, Mariko Eguchi, Hironori Shibata, Yuka Sei, Hiroki Hirai, Junpei Hamada, Misa Honda, Koji Takemoto
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 7, Iss 1, Pp 1-3 (2020)
Human Genome Variation, Vol 7, Iss 1, Pp 1-3 (2020)
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, hypogonadotropi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::581e206bf393a0135418d1f5d1af3897
https://doi.org/10.1038/s41439-020-00118-6
https://doi.org/10.1038/s41439-020-00118-6
