ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Izumi, Kosuke ; Brett, Maggie ; Nishi, Eriko ; Drunat, Séverine ; Tan, Ee-Shien ; Fujiki, Katsunori ; Lebon, Sophie ; Cham, Breana ; Masuda, Koji ; Arakawa, Michiko ; Jacquinet, Adeline ; Yamazumi, Yusuke ; Chen, Shu-Ting ; Verloes, Alain ; Okada, Yuki ; Katou, Yuki ; Nakamura, Tomohiko ; Akiyama, Tetsu ; Gressens, Pierre ; Foo, Roger ; Passemard, Sandrine ; Tan, Ene-Choo ; El Ghouzzi, Vincent ; Shirahige, Katsuhiko

American journal of human genetics, 2016-08, Vol.99 (2), p.451-459 [Periódico revisado por pares]

United States: Elsevier Inc

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