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Article

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Molecular genetics & genomic medicine - 1 Mar 2024

Khan Amjad, Al Shamsi Bushra, Al Shehhi Maryam, Kashgari Amna A, Al Balushi Aaisha, Al Dihan Fahad A, Alghamdi Mohannad A, Manal Abothnain, González-Álvarez Ana C, Arold Stefan T, Eyaid Wafaa

Abstract excerpt

Wiedemann-Rautenstrauch Syndrome (WRS; MIM 264090) is an extremely rare and highly heterogeneous syndrome that is inherited in a recessive fashion. The patients have hallmark features such as prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, facial dysmorphology, hypomyelination leukodystrophy, and mental impairment. Biallelic disease-causing variants in the RNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38348603
DOI: 10.1002/mgg3.2274
PMCID: PMC10958179

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Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.PMID 38348603Read ↗

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

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A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy.Semantic proximity Read ↗

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

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