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Title:

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

Document type:
Zeitschriftenaufsatz
Author(s):
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; Kölbel, Heike
Journal title:
Orphanet Journal of Rare Diseases
Year:
2019
Journal volume:
14
Journal issue:
1
Fulltext / DOI:
doi:10.1186/s13023-019-1119-0
Publisher:
Springer Science and Business Media LLC
E-ISSN:
1750-1172
Date of publication:
16.07.2019
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