A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2
Wandee Udomchaiprasertkul, Chulaluck Kuptanon, Thantrira Porntaveetus, Vorasuk Shotelersuk
Topics & Concepts
Dentinogenesis imperfectaOsteogenesis imperfectaProbandGeneticsMutationCompound heterozygosityMedicineGenotypeExonShort statureBone mineralGenotype-phenotype distinctionExome sequencingInternal medicineBiologyGenePathologyOsteoporosisConnective tissue disorders researchBone and Dental Protein StudiesCell Adhesion Molecules Research