Rossi, Alessandra; Blok, Lot Snijders; Neuser, Sonja; Klöckner, Chiara; Platzer, Konrad; Faivre, Laurence Olivier; Weigand, Heike; Dentici, Maria L; Tartaglia, Marco; Niceta, Marcello; Alfieri, Paolo; Srivastava, Siddharth; Coulter, David; Smith, Lacey; Vinorum, Kristin; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Torun, Deniz; Arslan, Mutluay; Lauridsen, Mathilde F; Murch, Oliver; Irving, Rachel; Lynch, Sally A; Mehta, Sarju G; Carmichael, Jenny; Zonneveld-Huijssoon, Evelien; de Vries, Bert; Kleefstra, Tjitske; Johannesen, Katrine M; Westphall, Ian T; Hughes, Susan S; Smithson, Sarah; Evans, Julie; Dudding-Byth, Tracy; Simon, Marleen; van Binsbergen, Ellen; Herkert, Johanna C; Beunders, Gea; Oppermann, Henry; Bakal, Mert; Møller, Rikke S; Rubboli, Guido; Bayat, Allan
(Wiley-Blackwell, 2023-08)
POU3F3 variants cause developmental delay, behavioral problems, hypotonia and dysmorphic features. We investigated the phenotypic and genetic landscape, and genotype-phenotype correlations in individuals with POU3F3-related ...