Disease: Cerebro-oculo-facio-skeletal syndrome
- Anesthesia for intestinal obstruction in a six years old child with cerebro-oculo-facio-skeletal syndrome
- Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2
- Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus
- Cockayne syndrome: a diffusion tensor imaging and volumetric study
- COFS type 3 in an Indian family with antenatally detected arthrogryposis
- Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome
- Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
- DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity
- Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene
- Heterogeneity and overlaps in nucleotide excision repair disorders
- Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
- Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature
- Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis
- The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex
- The ERCC1 and ERCC4 (XPF) genes and gene products
- The nucleotide excision repair proteins through the lens of molecular dynamics simulations