| 1 | NPROS, POLR3A
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| Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
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| Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A.
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| Am J Hum Genet 103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.
2018
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| 2 | NPROS, POLR3A
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| Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
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| Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB.
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| Hum Genet 137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.
2018
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| 3 | NPROS, POLR3A
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| Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
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| Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC.
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| J Med Genet 55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.
2018
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| 4 | NPROS, POLR3A
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| Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
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| Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV.
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| Am J Med Genet A 170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9.
2016
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