De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
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R. Pfundt | M. Reijnders | J. Gécz | S. Cheung | H. Brunner | R. Roepman | A. Nordgren | V. Sutton | C. Gilissen | T. Kleefstra | G. Mancini | C. V. van Ravenswaaij-Arts | U. Kini | Z. Stark | S. Wood | B. Anderlid | A. Barnicoat | E. Hobson | H. Malmgren | N. Cooper | S. Price | J. Vogt | L. Jolly | A. Harila-Saari | F. Probst | M. Vreeburg | B. Latour | B. Reversade | P. Magoulas | A. Brooks | Deepti Domingo | J. Lim | A. Lai | H. Veenstra-Knol | Carlo L.M. Marcelis | Kaman Wu | V. Zachariadis | Carlo Marcelis
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