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

Bayat, Allan; Knaus, Alexej; Juul, Annika Wollenberg; Dukic, Dejan; Gardella, Elena; Charzewska, Agnieszka; Clement, Emma; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Horn, Denise; Horton, Rachel; Hurst, Jane A.; Josifova, Dragana; Larsen, Line H. G.; Lascelles, Karine; Obersztyn, Ewa; Pagnamenta, Alistair; Pal, Deb K.; Pendziwiat, Manuela; Ryten, Mina; Taylor, Jenny; Vogt, Julie; Weber, Yvonne; Krawitz, Peter M.; Helbig, Ingo; Kini, Usha; Moller, Rikke S.

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

Autor(en):

Bayat, Allan; Knaus, Alexej; Juul, Annika Wollenberg; Dukic, Dejan; Gardella, Elena; Charzewska, Agnieszka; Clement, Emma; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Horn, Denise; Horton, Rachel; Hurst, Jane A.; Josifova, Dragana; Larsen, Line H. G.; Lascelles, Karine; Obersztyn, Ewa; Pagnamenta, Alistair; Pal, Deb K.; Pendziwiat, Manuela; Ryten, Mina; Taylor, Jenny; Vogt, Julie; Weber, Yvonne; Krawitz, Peter M.; Helbig, Ingo; Kini, Usha; Moller, Rikke S.

Tübinger Autor(en):

Weber, Yvonne G.

Erschienen in:

Genetics in Medicine (2019), Bd. 21, H. 10, S. 2216-2223

Verlagsangabe:

Nature Publishing Group

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1038/s41436-019-0512-3

ISSN:

1530-0366