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

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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Bibliographic Details
Main Authors: Arleta Waszczykowska, Krzysztof Jeziorny, Dobromiła Barańska, Katarzyna Matera, Aleksandra Pyziak-Skupien, Michał Ciborowski, Agnieszka Zmysłowska
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Genes
Subjects:
Alström syndrome
Bardet–Biedl syndrome
OCT
MRS
Online Access:https://www.mdpi.com/2073-4425/14/9/1784

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https://www.mdpi.com/2073-4425/14/9/1784

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