Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report

פריטים דומים

• Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) Associated with a De Novo Missense Variant in NALCN: The First Korean Case Report
  מאת: Yoon Hee Jo, et al.
  יצא לאור: (2025-01-01)
• P436: A novel pathogenic variant in NALCN gene in a newborn with CLIFAHDD syndrome
  מאת: Burak Altintas, et al.
  יצא לאור: (2024-01-01)
• Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review
  מאת: Yi Chen, et al.
  יצא לאור: (2024-05-01)
• Anesthetic management of a 9-year-old girl with Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay syndrome: airway difficulties and postoperative apnea during tendon surgery
  מאת: Jessica G. Santos, et al.
  יצא לאור: (2025-01-01)
• Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis
  מאת: Davide Vecchio, et al.
  יצא לאור: (2024-12-01)