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Spondyloepimetaphyseal dysplasia,short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence |
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| Authors: | Katya Rozovsky Jacob Sosna Martine Le Merrer Natalia Simanovsky Benjamin Z. Koplewitz Jacob Bar-Ziv Valerie Cormier-Daire Annick Raas-Rothschild |
| Affiliation: | 1.Department of Radiology,Hadassah-Hebrew University Medical Center,Jerusalem,Israel;2.Department of Radiology,Beth Israel Deaconess Medical Center,Boston,USA;3.Department of Genetics,Université Paris Descartes, U781, H?pital Necker Enfants Malades,Paris,France;4.Department of Human Genetics and Metabolic Diseases,Hadassah-Hebrew University Medical Center,Jerusalem,Israel |
| Abstract: | BackgroundSpondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type (SEMD, SL-AC) is a rare autosomal recessive condition with a grave prognosis. |
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