PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals

Kampmeier, A; Leitao, E; Parenti, I; Beygo, J; Depienne, C; Bramswig, NC; Hsieh, TC; Afenjar, A; Beck-Wödl, S; Grasshoff, U; Haack, TB; Bijlsma, EK; Ruivenkamp, C; Lausberg, E; Elbracht, M; Haanpää, MK; Koillinen, H; Heinrich, U; Rost, I; Jamra, RA; Popp, D; Koch-Hogrebe, M; Rostasy, K; López-González, V; Sanchez-Soler, MJ; Macedo, C; Schmetz, A; Steinborn, C; Weidensee, S; Lesmann, H; Marbach, F; Caro, P; Schaaf, CP; Krawitz, P; Wieczorek, D; Kaiser, FJ; Kuechler, A

Kampmeier, A; Kuechler, A (通讯作者),Univ Duisburg Essen, Univ Med Essen, Inst Humangenet, Essen, Germany.;Kuechler, A (通讯作者),Univ Essen Gesamthsch, Essener Zentrum Seltene Erkrankungen EZSE, Essen, Germany.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2023; 10 ():

Abstract

In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting prote......

Full Text Link