SALL4mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference45 articles.
1. Further delineation of the acro-renal-ocular syndrome;Aalfs;Am J Med Genet,1996
2. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family;Al-Baradie;Am J Hum Genet,2002
3. Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation;Albrecht;Am J Med Genet A,2004
4. Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families;Becker;J Med Genet,2002
5. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenetic mechanism;Borozdin;J Med Genet,2004
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