De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Titel:
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Auteur:
Reijnders, Margot R.F. Zachariadis, Vasilios Latour, Brooke Jolly, Lachlan Mancini, Grazia M. Pfundt, Rolph Wu, Ka Man van Ravenswaaij-Arts, Conny M.A. Veenstra-Knol, Hermine E. Anderlid, Britt-Marie M. Wood, Stephen A. Cheung, Sau Wai Barnicoat, Angela Probst, Frank Magoulas, Pilar Brooks, Alice S. Malmgren, Helena Harila-Saari, Arja Marcelis, Carlo M. Vreeburg, Maaike Hobson, Emma Sutton, V. Reid Stark, Zornitza Vogt, Julie Cooper, Nicola Lim, Jiin Ying Price, Sue Lai, Angeline Hwei Meeng Domingo, Deepti Reversade, Bruno Gecz, Jozef Gilissen, Christian Brunner, Han G. Kini, Usha Roepman, Ronald Nordgren, Ann Kleefstra, Tjitske