A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome

Human Genetics

Volumn 119, Issue 1-2, 2006, Pages 154-161

  Miertus, Jan ^b,g   Borozdin, Wiktor ^c   Frecer, Vladimir ^d,e   Tonini, Giorgio ^f   Bertok, Sara ^a   Amoroso, Antonio ^g   Miertus, Stanislav ^d   Kohlhase, Jürgen ^c  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^c UNIVERSITY OF FREIBURG   (Germany)

^d UNIDO   (Italy)

^e CANCER RESEARCH INSTITUTE   (Slovakia)

^f INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^g UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENOMIC DNA; PROTEIN SALL4; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 20Q; CLINICAL FEATURE; DNA BINDING; DUANE RETRACTION SYNDROME; FEMALE; GENE SEQUENCE; GENETIC CONSERVATION; HUMAN; KIDNEY MALFORMATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; OKIHIRO SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SKULL MALFORMATION;

BASE SEQUENCE; BINDING, COMPETITIVE; CRANIOFACIAL ABNORMALITIES; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DUANE RETRACTION SYNDROME; FAMILY HEALTH; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; TRANSCRIPTION FACTORS; ZINC FINGERS;

EID: 33644560668     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0124-7     Document Type: Article

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