RNF113A

Publications

Corbett MA et al. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. J Med Genet. 2015;52(4):269-74. PMID: 25612912.

Mendelsohn BA et al. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020;182(3):513-520. PMID: 31880405.

Tessarech M et al. Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder. Am J Med Genet A. 2020;182(3):565-569. PMID: 31793730.