Biallelic variants in four genes underlying recessive osteogenesis imperfecta
Amir Hayat, Shabir Hussain, Muhammad Bilal, Mehran Kausar, Bader Almuzzaini, Safdar Abbas, Adeena Tanveer, Amjad Khan, Saima Siddiqi, Jia Nee Foo, Farooq Ahmad, Feroz Khan, Bushra Khan, Mariam Anees, Outi Mäkitie, Majid Alfadhel, Wasim Ahmad, Muhammad Umair
Topics & Concepts
Osteogenesis imperfectaSanger sequencingGeneticsExome sequencingShort statureHaploinsufficiencyBiologyGeneCompound heterozygosityGenetic linkageMutationPhenotypeAnatomyEndocrinologyConnective tissue disorders researchBone and Dental Protein StudiesUbiquitin and proteasome pathways