Condition: De Sanctis-Cacchione syndrome


rs121917901 in ERCC6 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 27004399 2016 Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

PMID 18628313 2008 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 26620705 2016 The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.

PMID 29572252 2018 Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

PMID 23311583 2013 A possible cranio-oro-facial phenotype in Cockayne syndrome.

PMID 28440418 2017 Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.

PMID 25356239 2014 A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.

PMID 9443879 1998 Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

PMID 26218421 2015 CSB-PGBD3 Mutations Cause Premature Ovarian Failure.

PMID 27186691 2017 Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.

rs1198241866 in ERCC6;PGBD3 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

PMID 11809892 2002 Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.

PMID 21143350 2011 Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.

PMID 18784753 2008 CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.

rs1554793270 in PGBD3;ERCC6 gene and De Sanctis-Cacchione syndrome PMID 19894250 2010 Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.