SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

Por Borozdin, W, Boehm, D, Leipoldt, M, Wilhelm, C, Reardon, W, Clayton-Smith, J, Becker, K, Muhlendyck, H, Winter, R, Giray, O, Silan, F, Kohlhase, J
Publicado em 2004

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Por Parisi, M A, Doherty, D, Eckert, M L, Shaw, D W W, Ozyurek, H, Aysun, S, Giray, O, Swaid, A Al, Shahwan, S Al, Dohayan, N, Bakhsh, E, Indridason, O S, Dobyns, W B, Bennett, C L, Chance, P F, Glass, I A
Publicado em 2006