Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

Neonatal progeroid syndrome or Wiedemann-Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have...

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Veröffentlicht in:	European journal of human genetics : EJHG 2020-12, Vol.28 (12), p.1675-1680
Hauptverfasser:	Temel, Sehime Gulsun, Ergoren, Mahmut Cerkez, Manara, Elena, Paolacci, Stefano, Tuncel, Gulten, Gul, Seref, Bertelli, Matteo
Format:	Artikel
Sprache:	eng
Schlagworte:	Aging DNA-directed RNA polymerase Genetic disorders Lipodystrophy Neonates Phenotypes RNA polymerase
Online-Zugang:	Volltext
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