SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
Borozdin
W
W
Institut für Humangenetik und Anthropologie, Universität Freiburg, Breisacher Str 33, D-79106 Freiburg, Germany.
Boehm
D
D
Leipoldt
M
M
Wilhelm
C
C
Reardon
W
W
Clayton-Smith
J
J
Becker
K
K
Mühlendyck
H
H
Winter
R
R
Giray
O
O
Silan
F
F
Kohlhase
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D019457:Chromosome Breakage / Q000235:genetics; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C472575:SALL4 protein, human; D014157:Transcription Factors