A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus

Documenti analoghi

• Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report
  di: Esther Levy, et al.
  Pubblicazione: (2026)
• Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE ‐ SWAS and Phenotype Expansion in Male Patients
  di: Yu Katata, et al.
  Pubblicazione: (2025)
• Genotype–Phenotype Correlations in Chinese Pediatric Patients With Single Large‐Scale Mitochondrial DNA Deletion Disorders
  di: Jun Wang, et al.
  Pubblicazione: (2025)
• Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
  di: Periyasamy Radhakrishnan, et al.
  Pubblicazione: (2024)
• Atypical Prader–Willi Syndrome Deletions: Insights Into the Complex Regulation and Phenotypic Variability
  di: Jannis Buecking, et al.
  Pubblicazione: (2025)