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المؤلفون: Davut Pehlivan, Jennifer E. Posey, David Tegay, Robert Haber, John Dronzek, William Poueymirou, Yavuz Bayram, Aris N. Economides, Kristen Howell, Alan E Schlesinger, Kalyan C. Nannuru, Ingrid S. Paine, Harikiran Nistala, Chia-Jen Siao, Yavuz Sahin, Richard A. Gibbs, V. Reid Sutton, Alberto Santiago Cornier, Melissa A. Kelly, Gozde Yesil, Johanna Jimenez, Marc S. Williams, James R. Lupski, Bo Yuan, Alper Gezdirici, Claudia Gonzaga-Jauregui, Silvia Smaldone, Nan Wu, Zeynep Coban Akdemir, Kristy Nieman, Simon Carlo, Saathyaki Rajamani, Johnathon R. Walls, Jeffrey Staples, Norman Ramirez, Shek Man Chim, Jawid M Fatih
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Male, Adolescent, Fibrillar Collagens, Population, Consanguinity, Biology, Short stature, Article, 03 medical and health sciences, Mice, Gene Frequency, Genetics, medicine, Missense mutation, Animals, Hip Dislocation, Humans, Abnormalities, Multiple, Allele, education, Child, Allele frequency, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, Bone Development, Disease genetics, Disease model, 030305 genetics & heredity, Homozygote, Syndrome, medicine.disease, Osteochondrodysplasia, Founder Effect, Extracellular Matrix, Pedigree, Mice, Inbred C57BL, Scoliosis, Child, Preschool, Mutation, Female, medicine.symptom, Founder effect