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(Sinopulmonary syndromes)
199 results
  • Kartagener's syndrome: a case report. [Journal Article]
  • JMJ Med Case Rep 2018 Jan 10; 12(1):5
  • Tadesse A, Alemu H, … Gebrewold Y
  • CONCLUSIONS: Patients with Kartagener's syndrome exist in Ethiopia as cases of chronic recurrent sinopulmonary infections. As there is no easy, reliable non-invasive diagnostic test for Kartagener's syndrome and the correct diagnosis is often delayed by years, it may cause chronic respiratory problems with reduced quality of life. Genetic counseling and fertility issues should be addressed once Kartagener's syndrome is diagnosed.
  • [Cystic fibrosis in adults]. [Review]
  • VLVnitr Lek Winter 2018; 63(11):834-842
  • Fila L
  • Cystic fibrosis (CF) is an inherited disease caused by mutations in the transmembrane conductance regulator (CFTR) gene. The disease leads to dysfunction of the exocrine glands with high concentratio...
  • Prospective investigation of FOXP1 syndrome. [Journal Article]
  • MAMol Autism 2017; 8:57
  • Siper PM, De Rubeis S, … Buxbaum JD
  • CONCLUSIONS: This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome.
  • GeneReviews® [BOOK]
  • BOOKUniversity of Washington, Seattle: Seattle (WA)
  • Adam MP, Ardinger HH, … Amemiya AWang L, Clericuzio C, … Larizza L
  • Poikiloderma with neutropenia (PN) is characterized by an inflammatory eczematous rash (ages 6-12 months) followed by post-inflammatory poikiloderma (age >2 years) and chronic noncyclic neutropenia t...
  • StatPearls [BOOK]
  • BOOKStatPearls Publishing: Treasure Island (FL)
  • Stern Brittany M. BM Rush University Medical Center Sharma Girish G Rush University Medical Center
  • Primary ciliary dyskinesia (PCD), formerly known as immotile cilia syndrome,  is a disorder of motile cilia structure and function that results in chronic oto-sinopulmonary disease. Primary ciliary d...
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