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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2021
Fag:
Pediatrics
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker