Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene

Isr Med Assoc J. 2020 Apr;22(4):260-262.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics*
  • Child
  • Child, Preschool
  • Ciliary Motility Disorders* / genetics
  • Ciliary Motility Disorders* / physiopathology
  • Ciliary Motility Disorders* / therapy
  • Diagnosis, Differential
  • Female
  • Hearing Loss / diagnosis
  • Hearing Loss / etiology
  • Humans
  • Loss of Function Mutation
  • Lung Diseases* / diagnosis
  • Lung Diseases* / etiology
  • Lung Diseases* / physiopathology
  • Otitis* / diagnosis
  • Otitis* / etiology
  • Otitis* / physiopathology
  • Patient Care Management
  • Siblings
  • Situs Inversus* / diagnostic imaging
  • Situs Inversus* / genetics

Substances

  • Carrier Proteins
  • ODAD3 protein, human