Condition: Wiedemann-Rautenstrauch syndrome


rs1168641193 in POLR3A gene and Wiedemann-Rautenstrauch syndrome PMID 30414627 2018 Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

PMID 30323018 2018 Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

PMID 27612211 2016 Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

PMID 30450527 2018 Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.