Condition: Cerebrooculofacioskeletal Syndrome 2


rs121913023 in ERCC2 gene and Cerebrooculofacioskeletal Syndrome 2 PMID 11443545 2001 Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.