Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum

American Journal of Medical Genetics, Part A

Volumn 164, Issue 5, 2014, Pages 1304-1309

  Bogarapu, Soujanya ^a   Bleyl, Steven B ^a   Calhoun, Amy ^b   Viskochil, David ^a   Saarel, Elizabeth V ^a   Everitt, Melanie D ^a   Frank, Deborah U ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

Arrhythmia; Cardiac development; Conduction system; Congenital heart disease; Holt Oram syndrome; TBX3; TBX5; Ulnar mammary syndrome

Indexed keywords

T BOX TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX5;

ARTERY DYSPLASIA; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BODY MASS; BRONCHIOLITIS; CASE REPORT; CHILD; CLINODACTYLY; CORONARY SINUS; DELTOID MUSCLE; ECHOCARDIOGRAPHY; FOLLOW UP; GENE; GENE DELETION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART BLOCK; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE SEPTUM DEFECT; HOLT ORAM SYNDROME; HUMAN; HYPOSPADIAS; IMPLANTED HEART PACEMAKER; LIMB MALFORMATION; MALE; MALFORMATION SYNDROME; MUSCLE MALFORMATION; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY ARTERY; SINGLE NUCLEOTIDE POLYMORPHISM; SINUS NODE DISEASE; TBX3 GENE; TBX5 GENE; TOOTH MALFORMATION; ULNAR MAMMARY SYNDROME;

EID: 84898844433     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36447     Document Type: Article

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