A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder—Sengers Syndrome

Sengers syndrome is a rare autosomal recessive mitochondrial disorder characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy. We report two siblings with known mutation for Sengers Syndrome (AGK gene mutation) who presented to us with cataract and hypertrophic...

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Detalles Bibliográficos
Autores principales: Prabu, Rajesh V, Priyambada, Parul, Ranjini, H, Wasnik, Rajlaxmi B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7774168/
https://www.ncbi.nlm.nih.gov/pubmed/33120694
http://dx.doi.org/10.4103/ijo.IJO_760_20

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