Alport syndrome with mental retardation midface hypoplasia & elliptocytosis

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Pathology

Genetics

Clinical manifestations

Laboratory

Management

More general terms

References

  1. OMIM https://mirror.omim.org/entry/300194
  2. 2.0 2.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.
  3. 3.0 3.1 Gubler MC. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18094725

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