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Results 1 - 1 of 1 for "Short-rib" thoracic dysplasia 20 with polydactyly
  1. Mainzer-Saldino syndrome 
    ... Mainzer syndrome National Organization for Rare Disorders (NORD) ... retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics