Heighten Science Publications Inc.

Tag: #GeneticDisorders

  • Apert Syndrome Unveiling a Rare Craniofacial Disorder

    Apert Syndrome Unveiling a Rare Craniofacial Disorder

    —

    by

    Vishnu
    in

    Introduction: Apert Syndrome, a rare genetic condition, causes significant craniofacial abnormalities and syndactyly, affecting one in 160,000 to 200,000 live births. This article explores the clinical manifestations, diagnostic methods, and treatment approaches for Apert Syndrome. For more groundbreaking research on craniofacial disorders, visit https://www.obstetricgynecoljournal.com. Main Content: Apert Syndrome is an autosomal dominant disorder primarily caused…

  • Unraveling Gitelman Syndrome: A Rare Yet Critical Cause of Electrolyte Imbalance”

    Unraveling Gitelman Syndrome: A Rare Yet Critical Cause of Electrolyte Imbalance”

    —

    by

    Vishnu
    in

    Introduction Gitelman Syndrome (GS) is a rare genetic disorder affecting kidney electrolyte reabsorption, leading to persistent hypokalemia, hypomagnesemia, and metabolic alkalosis. Though often misdiagnosed, timely identification and management are crucial to prevent complications. Visit Clinical Nephrology Journal for more groundbreaking research in nephrology. Understanding Gitelman Syndrome GS is caused by mutations in the SLC12A3 gene,…