Medicine
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DOI: 10.17160/josha.12.3.1045
Kabuki Syndrome Diagnosed in utero: Clinical Case Reported in Santander, Colombia
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German Andres Guevara Lizarazo, Sergio Andrés Córdoba Silvestre, Rosalia Briceño Mora, Mariana Catalina Blanco Restrepo
Universidad Autonoma de Bucaramanga
Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in the KMT2D or KDM6A genes, affecting development and leading to multiple malformations. Diagnosis is usually postnatal, although prenatal…