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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation |
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| Authors: | Suzanne Drury Christopher Boustred Mehmet Tekman Horia Stanescu Robert Kleta Nicholas Lench Lyn S. Chitty Richard H. Scott |
| Affiliation: | 1. NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, United Kingdom;2. Division of Medicine, UCL, London, United Kingdom;3. Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom;4. UCLH NHS Foundation Trust, London, United Kingdom |
| Abstract: | |
| Keywords: | cerebrooculofacioskeletal syndrome (COFS) ERCC5 exome sequencing homozygosity mapping |