Condition: Okihiro Syndrome


rs74315429 in SALL4 gene and Okihiro Syndrome PMID 12393809 2002 Okihiro syndrome is caused by SALL4 mutations.

PMID 12395297 2002 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

PMID 16402211 2006 A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.

PMID 26791099 2016 Novel frameshift variant in gene SALL4 causing Okihiro syndrome.