Phenotypic continuum between Waardenburg syndrome and Idiopathic Hypogonadotropic Hypogonadism in humans with SOX10 mutations

PURPOSE: SOX10 mutations previously implicated in Waardenburg syndrome (WS), have now been linked to Kallmann Syndrome [KS], the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represent elements of a phenotypic continuum within a u...

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Detalles Bibliográficos
Autores principales: Rojas, Rebecca A., Kutateladze, Anna A., Plummer, Lacey, Stamou, Maria, Keefe, David L., Salnikov, Kathyrn B., Delaney, Angela, Hall, Janet E., Sadreyev, Ruslan, Ji, Fei, Fliers, Eric, Gambosova, Katarina, Quinton, Richard, Merino, Paulina M, Mericq, Veronica, Seminara, Stephanie B, Crowley, William F., Balasubramanian, Ravikumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8335791/
https://www.ncbi.nlm.nih.gov/pubmed/33442024
http://dx.doi.org/10.1038/s41436-020-01051-3

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