Fasham, J;
Arno, G;
Lin, S;
Xu, M;
Carss, KJ;
Hull, S;
Lane, A;
... NIHR Bioresource Rare Diseases Consortium; + view all
(2019)
Delineating the expanding phenotype associated with SCAPER gene mutation.
[Letter].
American Journal of Medical Genetics Part A
, 179
(8)
pp. 1665-1671.
10.1002/ajmg.a.61202.
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| Type: | Article |
|---|---|
| Title: | Delineating the expanding phenotype associated with SCAPER gene mutation |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/ajmg.a.61202 |
| Publisher version: | https://doi.org/10.1002/ajmg.a.61202 |
| Language: | English |
| Additional information: | This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/ |
| Keywords: | Brachydactyly, CCNA2-CDK2, Intellectual disability, Retinitis pigmentosa, SCAPER |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10076182 |
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