Quality of life and bleeding in osteogenesis imperfecta

K. Gooijer

Quality of life and bleeding in osteogenesis imperfecta

Doctoral School

Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

Abstract

Osteogenesis imperfecta (OI) is a rare congenital connective tissue disease, also known as "britle bone disease", because it leads to fragile bones and a high incidence of fractures. In most cases, britle bones are caused by decreased and/or abnormal production of collagen type 1 production due to a dominant pathogenic variant in either the COL1A1 or COL1A2 gene. This collagen

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Amsterdam
Supervisors/Advisors	Mannens, Marcel, Supervisor Henneman, Lidewij, Supervisor Franken, A. A. M., Co-supervisor, External person Elting, Mariet W., Supervisor, External person Mannens, M.M.A.M., Supervisor, External person
Award date	13 Jun 2024
Print ISBNs	9789465060293
Publication status	Published - 2024

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title = "Quality of life and bleeding in osteogenesis imperfecta",

abstract = "Osteogenesis imperfecta (OI) is a rare congenital connective tissue disease, also known as {"}britle bone disease{"}, because it leads to fragile bones and a high incidence of fractures. In most cases, britle bones are caused by decreased and/or abnormal production of collagen type 1 production due to a dominant pathogenic variant in either the COL1A1 or COL1A2 gene. This collagen",

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N2 - Osteogenesis imperfecta (OI) is a rare congenital connective tissue disease, also known as "britle bone disease", because it leads to fragile bones and a high incidence of fractures. In most cases, britle bones are caused by decreased and/or abnormal production of collagen type 1 production due to a dominant pathogenic variant in either the COL1A1 or COL1A2 gene. This collagen

AB - Osteogenesis imperfecta (OI) is a rare congenital connective tissue disease, also known as "britle bone disease", because it leads to fragile bones and a high incidence of fractures. In most cases, britle bones are caused by decreased and/or abnormal production of collagen type 1 production due to a dominant pathogenic variant in either the COL1A1 or COL1A2 gene. This collagen

UR - https://pure.uva.nl/ws/files/176406817/Licentieovereenkomst_medeondertekend_.pdf

M3 - Phd-Thesis - Research and graduation internal

SN - 9789465060293

ER -

Quality of life and bleeding in osteogenesis imperfecta

Abstract

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