Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease. The objective of this study was to characterize the genetic basis and u...

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Detalles Bibliográficos
Autores principales: Saadah, Omar I., Banaganapalli, Babajan, Kamal, Naglaa M., Sahly, Ahmed N., Alsufyani, Hadeel A., Mohammed, Arif, Ahmad, Aftab, Nasser, Khalidah Khalid, Al-Aama, Jumana Y., Shaik, Noor Ahmad, Elango, Ramu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107379/
https://www.ncbi.nlm.nih.gov/pubmed/33981653
http://dx.doi.org/10.3389/fped.2021.652011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107379/
https://www.ncbi.nlm.nih.gov/pubmed/33981653
http://dx.doi.org/10.3389/fped.2021.652011

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