A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation
Yis, Uluç, Uyanik, Gökhan, Kurul, Semra, Dirik, Eray, Özer, Erdener, Gross, Claudia and Hehr, Ute (2007) A case of Walker–Warburg syndrome resulting from a homozygous POMT1 mutation. European Journal of Paediatric Neurology 11 (1), pp. 46-49.Date of publication of this fulltext: 19 Dec 2024 14:00
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| Item type | Article | ||||
| Journal or Publication Title | European Journal of Paediatric Neurology | ||||
| Publisher: | ELSEVIER SCI LTD | ||||
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| Place of Publication: | OXFORD | ||||
| Volume: | 11 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Page Range: | pp. 46-49 | ||||
| Date | 2007 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Neurologie | ||||
| Identification Number |
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| Keywords | CONGENITAL MUSCULAR-DYSTROPHIES; MENTAL-RETARDATION; DYSTROGLYCAN; PHENOTYPE; DISRUPTION; GENE; congenital muscular dystrophy; alpha-dystroglycanopathy; POMT1 gene | ||||
| 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 | 69522 |
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