A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta.

Noman AhmadNabil Abdulrahman AleysaeMrougeMohamed SobaihiNisreenAbdulaziz NaitahMohammed Amin RasolAmjad Adnan Al-KouatliTalal Mohammad AlmaghamsiEmily Lenore Goldman HeaphyMeshal Hassan AttiyahMaymoonaAbdelmouz HraysBalgees AlghamdiAli Saeed Alzahrani

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)

We found significant extra-skeletal features and a high yield of genetic mutations associated with OI. We suggest further studies to develop a screening protocol for extra-skeletal features in children with OI.

Keyphrases

young adults
genome wide
randomized controlled trial
copy number
gene expression