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

Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Mueller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Huebner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Koelbel, Heike

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

Autor(en):

Geis, Tobias; Roedl, Tanja; Topaloglu, Haluk; Balci-Hayta, Burcu; Hinreiner, Sophie; Mueller-Felber, Wolfgang; Schoser, Benedikt; Mehraein, Yasmin; Huebner, Angela; Zirn, Birgit; Hoopmann, Markus; Reutter, Heiko; Mowat, David; Schuierer, Gerhard; Schara, Ulrike; Hehr, Ute; Koelbel, Heike

Tübinger Autor(en):

Hoopmann, Markus

Erschienen in:

Orphanet Journal of Rare Diseases (2019), Bd. 14, Article 179

Verlagsangabe:

Bmc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1186/s13023-019-1119-0

ISSN:

1750-1172