Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

Lignende værker

• Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
  af: Su, Jiasun, et al.
  Udgivet: (2021)
• Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein–Taybi syndrome type 2 in Chinese patients
  af: Qiang Zhang, et al.
  Udgivet: (2025-11-01)
• Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation
  af: Lalani, Seema R., et al.
  Udgivet: (2006)
• A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
  af: Yi, Sheng, et al.
  Udgivet: (2021)
• Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship
  af: Lu, Weiliang, et al.
  Udgivet: (2020)