Publication | Open Access

First Reported Patient with Human ERCC1 Deficiency Has Cerebro-Oculo-Facio-Skeletal Syndrome with a Mild Defect in Nucleotide Excision Repair and Severe Developmental Failure

Developmental AnomalySevere Developmental FailureGenetic DisorderGeneticsPathologyMedicineNucleotide Excision RepairMild Defect