Defining the clinical phenotype of Saul-Wilson syndrome.

PURPOSE: Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease remains poorly defined. We address this shortcoming b...

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Detalles Bibliográficos
Autores principales: Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L., Bratke, Heiko, Haug, Marte Gjøl, Rohena, Luis, Hove, Hanne B., Xia, Zhi-Jie, Ng, Bobby G., Freeze, Hudson H., Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Earl, Dawn L., Tham, Emma, Nishimura, Gen, Phillips, John A., Gahl, William A., Hamid, Rizwan, Jackson, Andrew P., Grigelioniene, Giedre, Bober, Michael B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205587/
https://www.ncbi.nlm.nih.gov/pubmed/31949312
http://dx.doi.org/10.1038/s41436-019-0737-1

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