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Year | Number of Results |
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A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Eur J Hum Genet. 2020 Apr;28(4):461-468. doi: 10.1038/s41431-019-0539-6. Epub 2019 Nov 6.
Eur J Hum Genet. 2020.
PMID: 31695177
Free PMC article.
Natural course of neonatal progeroid syndrome.
Hou JW.
Hou JW.
Pediatr Neonatol. 2009 Jun;50(3):102-9. doi: 10.1016/S1875-9572(09)60044-9.
Pediatr Neonatol. 2009.
PMID: 19579756
Free article.
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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I, Szelinger S, Siniard AL, Kurdoglu A, Corneveaux JJ, Malenica I, Richholt R, Van Camp G, De Both M, Swaminathan S, Turk M, Ramsey K, Craig DW, Narayanan V, Huentelman MJ.
Schrauwen I, et al.
PLoS One. 2015 Jul 15;10(7):e0131797. doi: 10.1371/journal.pone.0131797. eCollection 2015.
PLoS One. 2015.
PMID: 26176221
Free PMC article.
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A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.
Delatycki MB, Cleary MA, Bankier A, McDougall PN, Ahluwalia JS, Chow CW, Cooke-Yarborough CM.
Delatycki MB, et al.
J Med Genet. 1997 Jun;34(6):520-4. doi: 10.1136/jmg.34.6.520.
J Med Genet. 1997.
PMID: 9192279
Free PMC article.
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Wiedemann-Rautenstrauch neonatal progeroid syndrome: report of three new patients.
Arboleda H, Quintero L, Yunis E.
Arboleda H, et al.
J Med Genet. 1997 May;34(5):433-7. doi: 10.1136/jmg.34.5.433.
J Med Genet. 1997.
PMID: 9152846
Free PMC article.
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