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One-month-old girl presenting with pseudohypoaldosteronism leading to the diagnosis of CDK13-related disorder: a case report and review of the literature.
Yakubov, Renata; Ayman, Asaly; Kremer, Adi Klein; van den Akker, Machiel.
Afiliación
  • Yakubov R; Department of Pediatrics, Nephrology Unit, Hillel Yaffe Medical Center, Ha-Shalom Street, 38100, Hadera, Israel. renataya@bezeqint.net.
  • Ayman A; Department of Pediatrics, Nephrology Unit, Hillel Yaffe Medical Center, Ha-Shalom Street, 38100, Hadera, Israel.
  • Kremer AK; Department of Pediatrics, Nephrology Unit, Hillel Yaffe Medical Center, Ha-Shalom Street, 38100, Hadera, Israel.
  • van den Akker M; Department of Pediatrics, Queen Paola Children's Hospital, Antwerp, Belgium.
J Med Case Rep ; 13(1): 386, 2019 Dec 29.
Article en En | MEDLINE | ID: mdl-31883531

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Seudohipoaldosteronismo / Proteína Quinasa CDC2 / Mutación Missense / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Med Case Rep Año: 2019 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Psicomotores / Seudohipoaldosteronismo / Proteína Quinasa CDC2 / Mutación Missense / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Idioma: En Revista: J Med Case Rep Año: 2019 Tipo del documento: Article