Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Documenti analoghi

• Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease
  di: Pelin Ercoskun, et al.
  Pubblicazione: (2024)
• Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
  di: Luba M. Pardo, et al.
  Pubblicazione: (2025)
• Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B ‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series
  di: Sebastian Burkart, et al.
  Pubblicazione: (2025)
• Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?
  di: Omar Zgheib, et al.
  Pubblicazione: (2026)
• Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
  di: Sarah Araji, et al.
  Pubblicazione: (2026)