First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1773-1778

  Bui, Peter H ^a   Dorrani, Naghmeh ^a   Wong, Derek ^a   Perens, Gregory ^a   Dipple, Katrina M ^a   Quintero Rivera, Fabiola ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

18q11.2; Array CGH; ASD; CMA; Congenital cardiac disease; Congenital heart defects; DORV; Double outlet right ventricle; GATA6; Interstitial deletion; Kidney malformation; PDA; VSD

Indexed keywords

RETINOBLASTOMA BINDING PROTEIN; RETINOBLASTOMA BINDING PROTEIN 8; TRANSCRIPTION FACTOR GATA 6; UNCLASSIFIED DRUG;

AORTA VALVE DISEASE; ARTICLE; CASE REPORT; CHILD; CHOROID PLEXUS TUMOR; CHROMOSOME 18Q; CHROMOSOME 18Q11.2; CHROMOSOME DELETION; CLINICAL FEATURE; DEPRESSION; FALLOT TETRALOGY; FAMILY HISTORY; FEMALE; GATA6 GENE; GENE; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRONEPHROSIS; HYPOPLASIA; KIDNEY MALFORMATION; LAMA3 GENE; MUTISM; NEWBORN INTENSIVE CARE; NIEMANN PICK DISEASE; NONSENSE MUTATION; NPC1 GENE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; RBBP8 GENE; SECKEL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; TACHYCARDIA; ULTRASOUND;

CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 18; FEMALE; GATA6 TRANSCRIPTION FACTOR; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; PREGNANCY;

EID: 84879460959     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35974     Document Type: Article

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