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Multiple bilateral pneumothoraces

MedGen UID:
870645
•Concept ID:
C4025099
•
Disease or Syndrome
HPO: HP:0005939

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple bilateral pneumothoraces

Conditions with this feature

Fanconi-like syndrome
MedGen UID:
56237
•Concept ID:
C0151638
•
Disease or Syndrome
A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.
See: Condition Record
Fanconi-like syndrome

Recent clinical studies

Diagnosis

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article

Therapy

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article

Prognosis

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article

Clinical prediction guides

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.
Wilk MA, Braun AT, Farrell PM, Laxova A, Brown DM, Holt JM, Birch CL, Sosonkina N, Wilk BM, Worthey EA
Cold Spring Harb Mol Case Stud 2020 Feb;6(1) Epub 2020 Feb 3 doi: 10.1101/mcs.a004531. PMID: 32014855Free PMC Article

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