| 1 | MRXS35, RPL10
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| A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
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| Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L.
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| Hum Mutat 36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14.
2015
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| 2 | MRXS35, RPL10
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| RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
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| Thevenon J, Michot C, Bole C, Nitschke P, Nizon M, Faivre L, Munnich A, Lyonnet S, Bonnefont JP, Portes VD, Amiel J.
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| Am J Med Genet A 167A(8):1908-12. doi: 10.1002/ajmg.a.37094. Epub 2015 Apr 6.
2015
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| 3 | MRXS35, RPL10
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| A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
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| Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE.
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| Genetics 198(2):723-33. doi: 10.1534/genetics.114.168211.
2014
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