| 1 | MOPD1, RNU4ATAC
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| Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
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| Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.
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| Clin Genet 82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.
2012
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| 2 | MOPD1, RNU4ATAC
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| Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
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| He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A.
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| Science 332(6026):238-40.
2011
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| 3 | MOPD1, RNU4ATAC
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| Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
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| Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL.
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| Science 332(6026):240-3.
2011
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| 4 | MOPD1, RNU4ATAC
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| A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
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| Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N.
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| Am J Med Genet A 155(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11.
2011
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| 5 | MOPD1
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| Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
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| Leutenegger AL, Labalme A, Genin E, Toutain A, Steichen E, Clerget-Darpoux F, Edery P.
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| Am J Hum Genet 79(1):62-6. Epub 2006 Apr 28. 2006
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| 6 | MOPD1
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| Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome.
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| Leutenegger AL, Labalme A, Genin E, Toutain A, Steichen E, Clerget-Darpoux F, Edery P.
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| Am J Hum Genet 79(1):62-6. Epub 2006 Apr 28.
2006
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| 7 | MOPD1
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| Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
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| Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Ayme S, Philip N.
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| Am J Med Genet 80(1):16-24. Review. 1998
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| 8 | MOPD1
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| [Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]
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| Maroteaux P, Badoual J.
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| Arch Fr Pediatr 47(2):103-6. French.
1990
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| 9 | MOPD1, MOPD2
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| Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.
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| Majewski F, Ranke M, Schinzel A.
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| Am J Med Genet 12(1):23-35. 1982
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