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1دورية أكاديميةFirst case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.
المؤلفون: Fradin, Melanie1,2 melanie.fradin@chu-rennes.fr, Collet, Corinne3, Ract, Isabelle4, Odent, Sylvie1,2,5, Guggenbuhl, Pascal2,5,6,7
المصدر: Joint Bone Spine. Jan2017, Vol. 84 Issue 1, p87-90. 4p.
مصطلحات موضوعية: *HYPOGONADISM, *KLINEFELTER'S syndrome, *SEX chromosome abnormalities, *ARTERIOSCLEROSIS, *PHENOTYPES
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2دورية أكاديمية
المؤلفون: Fradin, Melanie1 (AUTHOR) melanie.fradin@chu-rennes.fr, Lavillaureix, Alinoe1,2 (AUTHOR), Jaillard, Sylvie3 (AUTHOR), Quelin, Chloe1 (AUTHOR), Sauleau, Paul4 (AUTHOR), Minot, Marie-Christine5 (AUTHOR), Menard, Dominique5 (AUTHOR), Edan, Gilles5,6 (AUTHOR), Ceballos, Irene7 (AUTHOR), Treguier, Catherine8 (AUTHOR), Proisy, Maia8 (AUTHOR), Magdelaine, Corinne9 (AUTHOR), Lia, Anne-Sophie9 (AUTHOR), Odent, Sylvie1,2 (AUTHOR), Pasquier, Laurent1,10 (AUTHOR)
المصدر: European Journal of Medical Genetics. Dec2020, Vol. 63 Issue 12, pN.PAG-N.PAG. 1p.
مصطلحات موضوعية: *MOTOR neuron diseases, *SPINAL muscular atrophy, *CERULOPLASMIN, *CLEARCUTTING, *MISSENSE mutation