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Kartika -
Residen, Departemen Radiologi Fakultas Kedokteran Universitas Udayana, Denpasar, Bali, Indonesia
Health Professions Medicine & Pharmacology Public Health

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Gambaran Radiologi untuk Deteksi Prenatal Osteogenesis Imperfecta Kartika -; Dewa Gde Mahiswara Suadiatmika
Cermin Dunia Kedokteran Vol 45, No 6 (2018): Penyakit Dalam
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55175/cdk.v45i6.659

Abstract

Osteogenesis imperfecta (OI) adalah kelainan heterogen genetik tulang dan jaringan ikat disebabkan mutasi dominan gen kolagen tipe I, COL1A1 dan COL1A2. Pemeriksaan radiologi masih menjadi alat skrining pertama untuk menentukan evaluasi genetik dini.Osteogenesis imperfecta (OI) is a genetic heterogenous disorder of bone and connective tissue caused by dominant mutation in collagen type I genes, COL1A1 and COL1A2. Radiological examination remains to be the first screening tool for early prenatal genetic evaluation.
Co-Authors Dewa Gede Mahiswara Suadiatmika