Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 685-688

  Chen, Jin Lan ^a   Yang, Yi Feng ^a   Huang, Can ^a   Wang, Jian ^a   Yang, Jin Fu ^a   Tan, Zhi Ping ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COLOR ULTRASOUND FLOWMETRY; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DOPPLER ECHOCARDIOGRAPHY; GENE DELETION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PULMONARY HYPERTENSION; SINGLE NUCLEOTIDE POLYMORPHISM; URINE INCONTINENCE;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; HEART DEFECTS, CONGENITAL; HUMANS; MALE;

EID: 84862787475     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34434     Document Type: Letter

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