Cermin Dunia Kedokteran
Vol 45 No 6 (2018): Interna

Gambaran Radiologi untuk Deteksi Prenatal Osteogenesis Imperfecta

Inez Kartika (Residen Departemen Radiologi Fakultas Kedokteran Universitas Udayana,Denpasar, Bali, Indonesia)
Dewa Gde Mahiswara Suadiatmika (Staf Departemen Radiologi Fakultas Kedokteran Universitas Udayana,Denpasar, Bali, Indonesia)

Article Info

Publish Date
01 Jun 2018

Abstract

Osteogenesis imperfecta (OI) adalah kelainan heterogen genetik tulang dan jaringan ikat yang disebabkan mutasi dominan gen kolagen tipe I, COL1A1, dan COL1A2. Pemeriksaan radiologi masih menjadi alat skrining pertama untuk menentukan evaluasi genetik prenatal 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.

Copyrights © 2018




Citation Download
RIS
EndNote, Reference Manager, ProCite
BibTex
Latex, Jabref
Original Source
Download Original
Google Scholar
Check in Google Scholar
Journal Info
Cermin Dunia Kedokteran
Website

Abbrev

cdk

Publisher

PT. Kalbe Farma Tbk.

Subject

Health Professions

Description

Cermin Dunia Kedokteran (CDK) is a Medical Journal published since 1974 and affiliated with PT Kalbe Farma Tbk. CDK is intended to help accommodate scientific publications and help increase and disseminate knowledge related to the development of medical science, pharmacy, and public health. CDK ...