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Pediatrics

Volumn 131, Issue 6, 2013, Pages

Maternal mosaicism confounds the neonatal diagnosis of type 1 timothy syndrome

(4) Dufendach, Keith A a Giudicessi, John R a,b,c Boczek, Nicole J a,c Ackerman, Michael J a

a Windland Smith Rice Sudden Death Genomics Laboratory (United States)

b MAYO CLINIC COLLEGE OF MEDICINE (United States)

c MAYO CLINIC (United States)

Author keywords

Long QT syndrome; Mosaicism; Syndactyly; Timothy syndrome

Indexed keywords

GENOMIC DNA;

ARTICLE; ATRIOVENTRICULAR BLOCK; AUTONOMIC DENERVATION; CACNA1C GENE; CASE REPORT; CHILD; DNA SEQUENCE; ELECTROCARDIOGRAM; EXON; GENE; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HEART ARRHYTHMIA; HUMAN; HUMAN TISSUE; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; INFANT; MALE; MOSAICISM; NEWBORN; PHENOTYPE; PLASTIC SURGERY; PRESCHOOL CHILD; PRIORITY JOURNAL; QT PROLONGATION; SYNDACTYLY; SYSTEMIC DISEASE; TYPE 1 TIMOTHY SYNDROME;

LONG QT SYNDROME; MOSAICISM; SYNDACTYLY; TIMOTHY SYNDROME;

DIAGNOSIS, DIFFERENTIAL; HUMANS; INFANT, NEWBORN; LONG QT SYNDROME; MALE; MOSAICISM; MOTHERS; MUTATION; SYNDACTYLY;

EID: 84878714830 PISSN: 00314005 EISSN: 10984275 Source Type: Journal
DOI: 10.1542/peds.2012-2941 Document Type: Article

Times cited : (27)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.