PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Bayat A., Knaus A., Juul AW., Dukic D., Gardella E., Charzewska A., Clement E., Hjalgrim H., Hoffman-Zacharska D., Horn D., Horton R., Hurst JA., Josifova D., Larsen LHG., Lascelles K., Obersztyn E., Pagnamenta A., Pal DK., Pendziwiat M., Ryten M., Taylor J., Vogt J., Weber Y., Krawitz PM., Helbig I., Kini U., Møller RS.

DOI

10.1038/s41436-019-0512-3

Type

Journal article

Journal

Genetics in Medicine

Publisher

Elsevier BV

Publication Date

10/2019

Volume

21

Pages

2216 - 2223

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