Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
Geis, Tobias, Rödl, Tanja, Topaloğlu, Haluk, Balci-Hayta, Burcu, Hinreiner, Sophie, Müller-Felber, Wolfgang, Schoser, Benedikt, Mehraein, Yasmin, Hübner, Angela, Zirn, Birgit, Hoopmann, Markus, Reutter, Heiko, Mowat, David, Schuierer, Gerhard, Schara, Ulrike, Hehr, Ute and Kölbel, Heike (2019) Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders. Orphanet Journal of Rare Diseases 14 (1).Date of publication of this fulltext: 03 Sep 2021 09:56
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| Item type | Article | ||||
| Journal or Publication Title | Orphanet Journal of Rare Diseases | ||||
| Publisher: | BMC | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 14 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Date | 2019 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Kinder- und Jugendmedizin Medicine > Lehrstuhl für Röntgendiagnostik | ||||
| Identification Number |
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| Keywords | WALKER-WARBURG-SYNDROME; CONGENITAL MUSCULAR-DYSTROPHY; POMT1 MUTATIONS; ALPHA-DYSTROGLYCAN; ENZYME-ACTIVITY; SUBTYPES; POMT1; Dystroglycan; Walker-Warburg syndrome; Limb girdle muscular dystrophy; Muscle-eye-brain disease; Lissencephaly; Hydrocephalus; Occipital encephalocele | ||||
| 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 | 48463 |
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