title: SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
authors.affiliation: Institut für Humangenetik und Anthropologie, Universität Freiburg, Breisacher Str 33, D-79106 Freiburg, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Borozdin
authors.forename: D
authors.initials: D
authors.lastname: Boehm
authors.forename: M
authors.initials: M
authors.lastname: Leipoldt
authors.forename: C
authors.initials: C
authors.lastname: Wilhelm
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: J
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: K
authors.initials: K
authors.lastname: Becker
authors.forename: H
authors.initials: H
authors.lastname: Mühlendyck
authors.forename: R
authors.initials: R
authors.lastname: Winter
authors.forename: O
authors.initials: O
authors.lastname: Giray
authors.forename: F
authors.initials: F
authors.lastname: Silan
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
mesh_terms: 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*
chemical_list: C472575:SALL4 protein, human; D014157:Transcription Factors