SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

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Veröffentlicht in:	Journal of medical genetics 2004-09, Vol.41 (9), p.e113-e113
Hauptverfasser:	Borozdin, W, Boehm, D, Leipoldt, M, Wilhelm, C, Reardon, W, Clayton-Smith, J, Becker, K, Mühlendyck, H, Winter, R, Giray, Ö, Silan, F, Kohlhase, J
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics acro-renal-ocular syndrome Base Sequence Chromosome Breakage - genetics Duane Retraction Syndrome - genetics Female FISH fluorescence in situ hybridisation Genes Genotype & phenotype haploinsufficiency Humans In Situ Hybridization, Fluorescence Male Mutation Okihiro syndrome OMIM Online Mendelian Inheritance in Man Online Mutation Report Pedigree Phenotype Polymerase Chain Reaction Proteins SALL4 Sequence Deletion - genetics single nucleotide polymorphism SNP Syndrome Transcription Factors - genetics
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