Article
Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
European journal of medical genetics - 1 Sept 2020
Kortüm Fanny, Niceta Marcello, Magliozzi Monia, Dumic Kubat Katja, Robertson Stephen P, Moresco Angelica, Dentici Maria Lisa, Baban Anwar, Leoni Chiara, Onesimo Roberta, Obregon Maria Gabriela, Digilio Maria Cristina, Zampino Giuseppe, Novelli Antonio, Tartaglia Marco, Kutsche Kerstin
Abstract excerpt
Cantú syndrome (CS) is a rare developmental disorder characterized by a coarse facial appearance, macrocephaly, hypertrichosis, skeletal and cardiovascular anomalies and caused by heterozygous gain-of-function variants in ABCC9 and KCNJ8, encoding subunits of heterooctameric ATP-sensitive potassium (KATP) channels. CS shows considerable clinical overlap with Zimmermann-Laband syndrome (ZLS), a rare condition with...
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