| Title: |
Delineating the expanding phenotype associated with SCAPER gene mutation |
| Authors: |
Fasham, J; Arno, G; Lin, S; Xu, M; Carss, KJ; Hull, S; Lane, A; Robson, AG; Wenger, O; Self, JE; Harlalka, GV; Salter, CG; Schema, L; Moss, TJ; Cheetham, ME; Moore, AT; Raymond, FL; Chen, R; Baple, EL; Webster, AR; Crosby, AH; NIHR Bioresource Rare Diseases Consortium |
| Source: |
American Journal of Medical Genetics Part A , 179 (8) pp. 1665-1671. (2019) |
| Publication Year: |
2019 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Brachydactyly; CCNA2-CDK2; Intellectual disability; Retinitis pigmentosa; SCAPER |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10076182/1/Arno_ajmg.a.61202.pdf; https://discovery.ucl.ac.uk/id/eprint/10076182/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10076182/1/Arno_ajmg.a.61202.pdf; https://discovery.ucl.ac.uk/id/eprint/10076182/ |
| Rights: |
open |
| Accession Number: |
edsbas.EE83B574 |
| Database: |
BASE |