A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

BACKGROUND: Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel change...

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Detalles Bibliográficos
Autores principales: Shurygina, Maria F., Parker, Maria A., Schlechter, Catie L., Chen, Rui, Li, Yumei, Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898930/
https://www.ncbi.nlm.nih.gov/pubmed/31810438
http://dx.doi.org/10.1186/s12886-019-1259-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6898930/
https://www.ncbi.nlm.nih.gov/pubmed/31810438
http://dx.doi.org/10.1186/s12886-019-1259-y

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