Citations for
1NBAS, SOPH
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.
Garcia Segarra N, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L.
Am J Med Genet A m J Med Genet A. 2015 Aug 19. doi: 10.1002/ajmg.a.37338. [Epub ahead of print] 2015
2NBAS, SOPH
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.
Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O.
J Med Genet 47(8):538-48. doi: 10.1136/jmg.2009.074815. Epub 2010 Jun 24. 2010