Broadening the PHIP-Associated Neurodevelopmental Phenotype

Authors: Giulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, Daniele Castiglia, Giovanni Di Zenzo, Biagio Didona

Source: Children, Vol 11, Iss 11, p 1395 (2024)

Subject Terms: PHIP, neurodevelopment, Chung–Jansen syndrome (CHUJANS), Pitt–Hopkins syndrome (PTHS)-like phenotype, abnormal skin appendages, teeth anomalies, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9067/11/11/1395; https://doaj.org/toc/2227-9067

Access URL: https://doaj.org/article/86293e5e4581412a8fc4657b8d38956a

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

Authors: Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J Kaiser, Alma Kuechler

Source: Frontiers in Cell and Developmental Biology, Vol 10 (2023)

Subject Terms: Chung-Jansen syndrome, CHUJANS, PHIP, DIDOD syndrome, ID, DD, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1020609/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/96bb68fe9add4f0698345b5dfbe47645