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Variants in the Degron of AFF3 Are Associated with Intellectual Disability, Mesomelic Dysplasia, Horseshoe Kidney, and Epileptic Encephalopathy.

Norine Voisin,Rhonda E. Schnur,Sofia Douzgou,Susan M. Hiatt,Cecilie F. Rustad,Natasha J. Brown,Dawn L. Earl,Boris Keren,Olga Levchenko,Sinje Geuer,Sarah Verheyen,Diana Johnson,Yuri A. Zarate,Miroslava Hancarova,David J. Amor,E. Martina Bebin,Jasmin Blatterer,Alfredo Brusco,Gerarda Cappuccio,Joel Charrow,Nicolas Chatron,Gregory M. Cooper,Thomas Courtin,Elena Dadali,Julien Delafontaine,Ennio Del Giudice,Martine Doco,Ganka Douglas,Astrid Eisenkolbl,Tara Funari,Giuliana Giannuzzi,Ursula Gruber-Sedlmayr,Nicolas Guex,Delphine Heron,Oystein L. Holla,Anna C. E. Hurst,Jane Juusola,David Kronn,Alexander Lavrov,Crystle Lee,Severine Lorrain,Else Merckoll,Anna Mikhaleva,Jennifer Norman,Sylvain Pradervand,Darina Prchalova,Lindsay Rhodes,Victoria R. Sanders,Zdenek Sedlacek,Heidelis A. Seebacher,Elizabeth A. Sellars,Fabio Sirchia,Toshiki Takenouchi,Akemi J. Tanaka,Heidi Taska-Tench,Elin Tonne,Kristian Tveten,Giuseppina Vitiello,Marketa Vlckova,Tomoko Uehara,Caroline Nava,Binnaz Yalcin,Kenjiro Kosaki,Dian Donnai,Stefan Mundlos,Nicola Brunetti-Pierri,Wendy K. Chung,Alexandre Reymond

The American Journal of Human Genetics（2021）

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关键词
mesomelic dysplasia,horseshoe kidney,intellectual disability,AFF3,AFF4
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