EYA1 mutation in a newborn female presenting with cardiofacial syndrome

Pediatric Cardiology

Volumn 25, Issue 4, 2004, Pages 411-413

  Shimasaki, N ^a   Watanabe, K ^b   Hara, M ^a   Kosaki, K ^b  

^a Shimizu City Hospital   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

22q deletion; Asymmetry; Cardiofacial syndrome; Depressor anguli oris; EYA1; Mutation analysis

Indexed keywords

ARTICLE; CARDIOFACIAL SYNDROME; CASE REPORT; CHROMOSOME 22; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; CRYING; CRYING FACE; EYA1 GENE; FACE DYSMORPHIA; FACE MUSCLE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC HETEROGENEITY; HUMAN; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NEWBORN;

EID: 3342988000     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-003-0271-3     Document Type: Article

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