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

    Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool by Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis

    Published 2025-07-01
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