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A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome

We report a case of a five-month-old girl, who presented to our hospital with increased work of breathing, sweating since birth, and abnormal eye movements. On further evaluation, she was found to have restrictive cardiomyopathy, nystagmus, and hypotonia. Genetic workup showed a pathogenic variant i...

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Detalles Bibliográficos
Autores principales: Snobar, Rania, Mohamed, Madiha, AlKamali, Ahmed, Gupta, Bhavna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9867829/
https://www.ncbi.nlm.nih.gov/pubmed/36694529
http://dx.doi.org/10.7759/cureus.32857