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المصدر: American Journal of Medical Genetics Part A. 164:1234-1238
مصطلحات موضوعية: Proband, medicine.medical_specialty, Osteochondrodysplasias, Short stature, Bone and Bones, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosomes, Human, X, Comparative Genomic Hybridization, Omodysplasia, Autosomal dominant omodysplasia, Autosomal recessive omodysplasia, business.industry, Rhizomelia, Facies, Humerus, Metacarpal Bones, Middle Aged, medicine.disease, Dermatology, Osteochondrodysplasia, Radiography, Natural history, Phenotype, Endocrinology, Female, Chromosome Deletion, medicine.symptom, T-Box Domain Proteins, business