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

Authors :: Borozdin W
Boehm D
Leipoldt M
Wilhelm C
Reardon W
Clayton-Smith J
Becker K
Mühlendyck H
Winter R
Giray O
Silan F
Kohlhase J
Source :: Journal of medical genetics [J Med Genet] 2004 Sep; Vol. 41 (9), pp. e113.
Publication Year :: 2004

Subjects :: Base Sequence
Chromosome Breakage genetics
Female
Humans
In Situ Hybridization, Fluorescence
Male
Pedigree
Phenotype
Polymerase Chain Reaction
Syndrome
Abnormalities, Multiple genetics
Duane Retraction Syndrome genetics
Sequence Deletion genetics
Transcription Factors genetics

Full Text Access

Tools