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Article

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

European journal of human genetics : EJHG - 1 Dec 2020

Temel Sehime Gulsun, Ergoren Mahmut Cerkez, Manara Elena, Paolacci Stefano, Tuncel Gulten, Gul Seref, Bertelli Matteo

Abstract excerpt

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 indicated that WRS patients have compound heterozygote variations in the POLR3A (RNA polymerase III subunit 3A; MIM...

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Identifiers

PMID: 32555393
DOI: 10.1038/s41431-020-0673-1
PMCID: PMC7784914

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.PMID 32555393Read ↗

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