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SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901.
J Med Genet. 2004.
PMID: 15342710
Free PMC article.
No abstract available.
Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.
Becker K, Beales PL, Calver DM, Matthijs G, Mohammed SN.
Becker K, et al.
J Med Genet. 2002 Jan;39(1):68-71. doi: 10.1136/jmg.39.1.68.
J Med Genet. 2002.
PMID: 11826030
Free PMC article.
No abstract available.
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