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