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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8107379/
https://ncbi.nlm.nih.gov/pubmed/33981653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.652011
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