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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
Borozdin W, Wright M, Hennekam R, Hannibal M, Crow YJ, Neumann T, Kohlhase J
J Med Genet. 2004;41( 8).
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Keyword(s)
Adult; Child, Preschool; Female; Humans; Male; Molecular Sequence Data; Pedigree; Phenotype; Syndrome; abnormalities: Kidney; genetics: Duane Retraction Syndrome; genetics: Eye Abnormalities; genetics: Mutation; genetics: Transcription Factors
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Place of publication:
England
Volume:
41( 8)
Digital Object Identifier:
10.1136/jmg.2004.019505
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Active
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Manchester eScholar ID:
uk-ac-man-scw:1d31945
Created:
2nd September, 2009, 14:12:44
Last modified:
3rd March, 2010, 18:55:58