Conotruncal heart defect/microphthalmia syndrome: Delineation of an autosomal recessive syndrome

Journal of Medical Genetics

Volumn 34, Issue 11, 1997, Pages 927-929

  Digilio, M C ^a   Marino, B ^a   Giannotti, A ^a   Dallapiccola, B ^b,c  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Congenital heart defect; Microphthalmia; Tetralogy of Fallot; Truncus arteriosus

Indexed keywords

ARTERIAL TRUNK; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME 22Q; CONGENITAL HEART MALFORMATION; FACE DYSMORPHIA; FEMALE; FETUS; GENE MAPPING; GENETIC COUNSELING; GENITAL MALFORMATION; HEMIZYGOSITY; HUMAN; HUMAN CELL; MALE; MICROPHTHALMIA; NEWBORN; PREGNANCY TERMINATION; PRIORITY JOURNAL; RECESSIVE GENE; SIBLING; SYNDROME; SYNDROME DELINEATION;

EID: 0030828070     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.11.927     Document Type: Article

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