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A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome
Purpose: Alström syndrome (AS) is a rare autosomal recessive disorder caused by variants of ALMS1. The objectives of this study were to describe the clinical and genetic characteristics of 19 Chinese patients with biallelic variants in ALMS1. Methods: We recruited 19 probands with biallelic disease-...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9845408/ https://www.ncbi.nlm.nih.gov/pubmed/36685911 http://dx.doi.org/10.3389/fgene.2022.1104420 |