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Article

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

American journal of medical genetics. Part A - 1 Dec 2016

Jay Allison M, Conway Robert L, Thiffault Isabelle, Saunders Carol, Farrow Emily, Adams John, Toriello Helga V

Abstract excerpt

Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare condition with fewer than 40 patients reported in the literature. Characteristic physical findings include neonatal progeroid appearance, sparse scalp hair, prominent scalp veins, and lipoatrophy; in addition, neonatal teeth are often a distinctive finding. The inheritance pattern of this disorder has been postulated to be...

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PMID: 27612211
DOI: 10.1002/ajmg.a.37960

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.PMID 27612211Read ↗

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.Semantic proximity Read ↗

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.Semantic proximity Read ↗

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.Semantic proximity Read ↗

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.Semantic proximity Read ↗

A synonymous POLR3A variant may relate to Wiedemann-Rautenstrauch syndromewithout developmental delay or intellectual disabilitySemantic proximity Read ↗

Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): report of three affected sibs.Semantic proximity Read ↗

[Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation].Semantic proximity Read ↗

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Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.Semantic proximity Read ↗

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