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fam20c (47) 47
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Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2013, Volume 28, Issue 6, pp. 1378 - 1385
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 577 - 583
Abstract Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized... 
Medical Education | Raine syndrome | FAM20C gene | Kohlschutter-Tonz syndrome | OSTEOSCLEROTIC BONE DYSPLASIA | DENTINOGENESIS | GENETICS & HEREDITY | FAM20C | MUTATIONS | AMELOGENESIS | Cleft Palate - diagnosis | Microcephaly - genetics | Seizures - genetics | Bone Diseases, Developmental - mortality | Casein Kinase I - genetics | Humans | Dementia - diagnosis | Dementia - physiopathology | Learning Disorders - physiopathology | Male | Cleft Palate - genetics | Epilepsy - mortality | Microcephaly - mortality | Abnormalities, Multiple - mortality | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Epilepsy - physiopathology | Exophthalmos - mortality | Dementia - genetics | Bone Diseases, Developmental - physiopathology | Osteosclerosis - mortality | Seizures - physiopathology | Amelogenesis Imperfecta - diagnosis | Exophthalmos - genetics | Amelogenesis Imperfecta - mortality | Epilepsy - genetics | Female | Microcephaly - physiopathology | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Cleft Palate - mortality | Osteosclerosis - diagnosis | Amelogenesis Imperfecta - physiopathology | Extracellular Matrix Proteins - genetics | Microcephaly - diagnosis | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Exophthalmos - diagnosis | Dementia - mortality | Epilepsy - diagnosis | Phenotype | Abnormalities, Multiple - diagnosis | Adolescent | Learning Disorders - genetics | Osteosclerosis - physiopathology | Biodegradation | Dysplasia | Learning disabilities | Diagnosis | Seizures (Medicine) | Casein | Index Medicus
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 03/2015, Volume 30, Issue 3, pp. 431 - 436
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2019, Volume 179, Issue 9, pp. 1866 - 1871
Journal Article
Journal Article
Journal of The American Society for Mass Spectrometry, ISSN 1044-0305, 5/2018, Volume 29, Issue 5, pp. 935 - 947
Journal Article