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Autosomal ichthyosis syndrome with fatal disease course

MedGen UID:
1842572
•Concept ID:
C5681026
•
Disease or Syndrome
Orphanet: ORPHA281241

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal ichthyosis syndrome with fatal disease course

Recent clinical studies

Prognosis

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O
Am J Med Genet A 2005 Mar 1;133A(2):128-31. doi: 10.1002/ajmg.a.30515. PMID: 15633193

Clinical prediction guides

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O
Am J Med Genet A 2005 Mar 1;133A(2):128-31. doi: 10.1002/ajmg.a.30515. PMID: 15633193

Supplemental Content

Table of contents

    Clinical resources

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