Pierre-Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Salima El Chehadeh, David Geneviève, Valentin Ruault, Mélanie Fradin, Laurent Pasquier, Julien Thévenon, Bruno Delobel, Lydie Burglen, Alexandra Afenjar, Laurence Faivre, Christine Francannet, Anne-Marie Guerrot, Alice Goldenberg, Sandra Mercier, Delphine Héron, Daphné Lehalle, Cyril Mignot, Isabelle Marey, Perrine Charles, Sébastien Moutton, Stéphane Bézieau, Allan Bayat, Amélie Piton, Marjolaine Willems, Marie Vincent
DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs...
September 22, 2023: American Journal of Medical Genetics. Part A