Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association.
Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Cammon B
CB
Arrington
Ankita
A
Patel
Carlos A
CA
Bacino
Neil E
NE
Bowles
D001003:Anal Canal / Q000002:abnormalities; D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D057895:Haploinsufficiency / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D007668:Kidney / Q000002:abnormalities; D060588:LIM Domain Proteins; D017880:Limb Deformities, Congenital / Q000150:complications / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion; D013131:Spine / Q000002:abnormalities; D013771:Tetralogy of Fallot / Q000150:complications* / Q000235:genetics*; D014132:Trachea / Q000002:abnormalities
D003598:Cytoskeletal Proteins; D060588:LIM Domain Proteins; C103594:LPP protein, human