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SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215.
Hum Mutat. 2005.
PMID: 16086360
IVIC syndrome is caused by a c.2607delA mutation in the SALL4 locus.
Paradisi I, Arias S.
Paradisi I, et al.
Am J Med Genet A. 2007 Feb 15;143(4):326-32. doi: 10.1002/ajmg.a.31603.
Am J Med Genet A. 2007.
PMID: 17256792
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Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.
Vanlerberghe C, Jourdain AS, Ghoumid J, Frenois F, Mezel A, Vaksmann G, Lenne B, Delobel B, Porchet N, Cormier-Daire V, Smol T, Escande F, Manouvrier-Hanu S, Petit F.
Vanlerberghe C, et al.
Eur J Hum Genet. 2019 Mar;27(3):360-368. doi: 10.1038/s41431-018-0303-3. Epub 2018 Dec 14.
Eur J Hum Genet. 2019.
PMID: 30552424
Free PMC article.
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