Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

IntroductionThe glycosylphosphatidylinositol (GPI) anchor is a glycolipid that anchors proteins to the eukaryotic cell surface. An anchoring process is a posttranslational modification of at least 150 molecules with various functions. Biallelic causal variants in the PIGQ gene (OMIM: * 605754) are a...

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Principais autores:	Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis
Format:	Artigo
Jezik:	Inglês
Izdano:	Frontiers Media S.A. 2025-07-01
Serija:	Frontiers in Genetics
Teme:	PIGQ-CDG PIGQ gene GPI-anchor GPI-anchor deficiency MCAHS4 rhabdomyolysis
Online dostop:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1598602/full
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