Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
| Title: | Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies |
|---|---|
| Authors: | Krall, M; Htun, S; Schnur, RE; Brooks, Alice; Baker, L; Campomanes, AD; Lamont, RE; Gripp, KW; Schneidman-Duhovny, D; Innes, AM; Verheijen - Mancini, Grazia; Slavotinek, AM |
| Source: | Krall, M, Htun, S, Schnur, RE, Brooks, A, Baker, L, Campomanes, AD, Lamont, RE, Gripp, KW, Schneidman-Duhovny, D, Innes, AM, Verheijen - Mancini, G & Slavotinek, AM 2019, 'Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies', European Journal of Human Genetics, vol. 27, no. 4, pp. 582-593. https://doi.org/10.1038/s41431-018-0298-9 |
| Publication Year: | 2019 |
| Subject Terms: | /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01 |
| Document Type: | article in journal/newspaper |
| Language: | unknown |
| ISSN: | 1018-4813; 1476-5438 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/30622326; info:eu-repo/semantics/altIdentifier/pissn/1018-4813; info:eu-repo/semantics/altIdentifier/eissn/1476-5438 |
| DOI: | 10.1038/s41431-018-0298-9 |
| Availability: | https://pure.eur.nl/en/publications/50437c51-a130-4812-86db-631eac9e7619; https://doi.org/10.1038/s41431-018-0298-9; https://hdl.handle.net/1765/116232 |
| Rights: | info:eu-repo/semantics/closedAccess |
| Accession Number: | edsbas.741B45D9 |
| Database: | BASE |