Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene

Documenti analoghi

• Biallelic Variants in TMEM17 Cause Meckel‐Gruber Syndrome Within the Ciliopathy Spectrum
  di: Luba M. Pardo, et al.
  Pubblicazione: (2025)
• Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype
  di: Suzanne E. L. Detiger, et al.
  Pubblicazione: (2025)
• Novel Pathogenic Biallelic Variants in KIAA0586 Expand the Variant Spectrum of Ciliopathies
  di: Yue Shen, et al.
  Pubblicazione: (2025)
• Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach
  di: Kseniya Davydenko, et al.
  Pubblicazione: (2025)
• Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease
  di: Berta Estévez‐Arias, et al.
  Pubblicazione: (2025)