Article
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Clinical genetics - 1 Jul 2020
Ranza Emmanuelle, Guimier Anne, Verloes Alain, Capri Yline, Marques Charles, Auclair Martine, Mathieu-Dramard Michèle, Morin Gilles, Thevenon Julien, Faivre Laurence, Thauvin-Robinet Christel, Innes A Micheil, Dyment David A, Vigouroux Corinne, Amiel Jeanne
Abstract excerpt
Overlapping syndromes such as Noonan, Cardio-Facio-Cutaneous, Noonan syndrome (NS) with multiple lentigines and Costello syndromes are genetically heterogeneous conditions sharing a dysregulation of the RAS/mitogen-activated protein kinase (MAPK) pathway and are known collectively as the RASopathies. PTPN11 was the first disease-causing gene identified in NS and remains the more prevalent. We report seven...
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