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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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 |