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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522263/ https://www.ncbi.nlm.nih.gov/pubmed/33082981 http://dx.doi.org/10.1038/s41439-020-00118-6 |