Clinical delineation of SETBP1 haploinsufficiency disorder
Nadieh A. Jansen, Ruth Braden, Siddharth Srivastava, Erin F. Otness, Gaëtan Lesca, Massimiliano Rossi, Mathilde Nizon, Raphael Bernier, Chloé Quēlin, Arie van Haeringen, Tjitske Kleefstra, Maggie M. K. Wong, Sandra Whalen, Simon E. Fisher, Angela Morgan, Bregje W.M. van Bon
Topics & Concepts
HaploinsufficiencyPenetranceHypotoniaGeneticsGlobal developmental delayMedicinePsychologyBiologyPhenotypeGeneGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare Diseases