De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
scientific article published on 27 January 2016
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author: Jozef Gécz, Stephen A Wood, Christian Gilissen, Ann Nordgren, Han G. Brunner, Usha Kini, Hermine E Veenstra-Knol, Conny M A van Ravenswaaij-Arts, Rolph Pfundt, Tjitske Kleefstra, Margot R F Reijnders, Grazia M S Mancini, Maaike Vreeburg, Sau Wai Cheung, Carlo L Marcelis, Zornitza Stark
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