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Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alström and Bardet–Biedl Syndromes

Bardet–Biedl syndrome (BBS) and Alström syndrome (ALMS) are rare multisystem diseases with an autosomal recessive mode of inheritance and genetic heterogeneity, characterized by visual impairment, hearing impairment, cardiomyopathy, childhood obesity, and insulin resistance. The purpose of our study...

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Detalles Bibliográficos
Autores principales: Waszczykowska, Arleta, Jeziorny, Krzysztof, Barańska, Dobromiła, Matera, Katarzyna, Pyziak-Skupien, Aleksandra, Ciborowski, Michał, Zmysłowska, Agnieszka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530666/
https://www.ncbi.nlm.nih.gov/pubmed/37761924
http://dx.doi.org/10.3390/genes14091784