Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

Lignende værker

• Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss
  af: Ramzan, Khushnooda, et al.
  Udgivet: (2017)
• Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
  af: Al-Qattan, Mohammad M., et al.
  Udgivet: (2018)
• Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
  af: Kim, So Young, et al.
  Udgivet: (2015)
• Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
  af: Zardadi, Safoura, et al.
  Udgivet: (2020)
• Variation in DNAH1 may contribute to primary ciliary dyskinesia
  af: Imtiaz, Faiqa, et al.
  Udgivet: (2015)