Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association.
Arrington
Cammon B
CB
Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Patel
Ankita
A
Bacino
Carlos A
CA
Bowles
Neil E
NE
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