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

Journal of medical genetics

Volumn 41, Issue 9, 2004, Pages

  Borozdin, W ^a   Boehm, D ^a   Leipoldt, M ^a   Wilhelm, C ^a   Reardon, W ^a   Clayton Smith, J ^a   Becker, K ^a   Muhlendyck H ^a   Winter, R ^a   Giray, O ^a   Silan, F ^a   Kohlhase, J ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SALL4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CHROMOSOME BREAKAGE; DUANE RETRACTION SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETICS; HUMAN; MALE; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHROMOSOME BREAKAGE; DUANE RETRACTION SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 21144446437     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.019901     Document Type: Article

References (0)