Molecular studies in osteogenesis imperfecta [OI] I. Clinical analysis of patients with osteogenesis imperfecta

• Autorzy: Pietrzyk J J , Kruczek A. , Kostyk E. , Sucharski P. , Piatkowska E.
• Języki publikacji: EN

Abstrakty

EN

The goal of this study is to develop optimal diagnostic methods for osteogenesis imperfecta (OI), which will allow to distinguish familial from spontaneous cases and can be used in prenatal diagnostics as well. The paper summarizes the clinical part of the study, in which 69 families were analyzed. The families with OI were registered, their pedigrees were studied, a clinical classification of the disease was carried out and the dermatoglyphics of the affected patients were analyzed. Based on the above results a diagnostic algorithm was elaborated.

Słowa kluczowe

EN

disease; collagen protein; clinical classification; collagen type I; collagen synthesis; mutation; diagnostic method; osteogenesis imperfecta

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 1998
• Tom: 39
• Numer: 4
• Opis fizyczny: p.331-348

Twórcy

autor

Pietrzyk J J

• Collegium Medicum Jagiellonian University, Wielicka 265, 30-663 Krakow, Poland

autor

Kruczek A.

autor

Kostyk E.

autor

Sucharski P.

autor

Piatkowska E.

Bibliografia

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