Kampmeier, Antje; Leitao, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria-C; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Woedl, Stefanie; Grasshoff, Ute; Haack, Tobias-B; Bijlsma, Emilia-K; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpaa, María-K; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami-Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; López-González, Vanesa; Sánchez-Soler, María-José; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian-P; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank-J; Kuechler, Alma
(FRONTIERS MEDIA SA, 2023-01-16)
In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM 612,870) and mainly characterized by developmental delay (DD), ...