- Tytuł:
- 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. - Powiązania:
- https://bibliotekanauki.pl/articles/2044210.pdf
- Data publikacji:
- 1998
- Wydawca:
- Polska Akademia Nauk. Czytelnia Czasopism PAN
- Tematy:
-
disease
collagen protein
clinical classification
collagen type I
collagen synthesis
mutation
diagnostic method
osteogenesis imperfecta - Opis:
- 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.
- Źródło:
-
Journal of Applied Genetics; 1998, 39, 4; 331-348
1234-1983 - Pojawia się w:
- Journal of Applied Genetics
- Dostawca treści:
- Biblioteka Nauki
Artykuł