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160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
Czeschik, Johanna Christina
, Hehr, Ute, Hartmann, Britta, Lüdecke, Hermann-Josef, Rosenbaum, Thorsten, Schweiger, Bernd and Wieczorek, Dagmar
(2013)
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome.
European Journal of Medical Genetics 56 (12), pp. 689-694.
Date of publication of this fulltext: 19 Dec 2024 08:32
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| Item type | Article | ||||
| Journal or Publication Title | European Journal of Medical Genetics | ||||
| Publisher: | ELSEVIER SCIENCE BV | ||||
|---|---|---|---|---|---|
| Place of Publication: | AMSTERDAM | ||||
| Volume: | 56 | ||||
| Number of Issue or Book Chapter: | 12 | ||||
| Page Range: | pp. 689-694 | ||||
| Date | 2013 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | GIRDLE MUSCULAR-DYSTROPHY; ALPHA-DYSTROGLYCAN; MISSENSE MUTATIONS; GENE; ISPD; Walker-Warburg syndrome; Dystroglycanopathy; Hydrocephalus; Seizures; Cerebellar hypoplasia; Corpus callosum agenesis | ||||
| 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 | 62025 |
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