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pro vyhledávání: '"Aviel, Ragamin"'
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Children with atopic dermatitis (AD) are more at risk for the neurodevelopmental disorders attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) with parallel increases in global prevalences. Children afflict
Externí odkaz:
https://doaj.org/article/69c1cce962124653a381b157af323129
Autor:
Aviel, Ragamin, Carolina C, Gomes, Karen, Bindels-de Heus, Renata, Sandoval, Angelia V, Bassenden, Luciano, Dib, Fernando, Kok, Julieta, Alves, Irene, Mathijssen, Evita, Medici-Van den Herik, Robert, Eveleigh, Tenzin, Gayden, Bas, Pullens, Albert, Berghuis, Marjon, van Slegtenhorst, Martina, Wilke, Nada, Jabado, Grazia Maria Simonetta, Mancini, Ricardo Santiago, Gomez
Publikováno v:
Journal of medical genetics. 59(3)
Pathogenic germline variants inHere we report two unrelated women with a de novo germline p.Leu619ProFrom an early age, both patients had several lesions of the nervous system including progressive polyneuropathy, and multiple aggressive giant cell-r