Further evidence for POMK as candidate gene for WWS with meningoencephalocele
Article
Paul, Luisa, Rupprich, Katrin, Della Marina, Adela, Stein, Anja, Elgizouli, Magdeldin, Kaiser, Frank J., Schweiger, Bernd, Köninger, Angela, Iannaccone, Antonella, Hehr, Ute, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike and Kuechler, Alma (2020) Further evidence for POMK as candidate gene for WWS with meningoencephalocele. Orphanet Journal of Rare Diseases 15 (1).Alternative links to fulltext
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Details
| Item type | Article | ||||
| Journal or Publication Title | Orphanet Journal of Rare Diseases | ||||
| Publisher | BMC | ||||
| Place of Publication | LONDON | ||||
| Volume | 15 | ||||
| Number of Issue or Book Chapter | 1 | ||||
| Date | 2020 | ||||
| Date of publication | 11 Oct 2021 12:44 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | POMK; KINASE; POMK; Protein O-mannose kinase; Walker-Warburg syndrome; Alpha-dystroglycanopathy; Congenital muscular dystrophy; Meningoencephalocele | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 49687 |
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