X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3

European Journal of Human Genetics

Volumn 8, Issue 9, 2000, Pages 704-708

  Mégarbané, André ^a   Salem, Nabiha ^a   Stephan, Edouard ^a   Ashoush, Ramzi ^b   Lenoir, Didier ^c   Delague, Valérie ^a   Kassab, Roland ^c   Loiselet, Jacques ^a   Bouvagnet, Patrice ^c,d  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c UNIVERSITÉ LYON 1   (France)

^d LOUIS PRADEL HOSPITAL   (France)

Author keywords

Arteries; Incomplete penetrance; Mutation; Recessive X linked; Transposition; ZIC3

Indexed keywords

PROTEIN;

ARTICLE; CASE REPORT; CONGENITAL HEART MALFORMATION; CYANOSIS; EXON; GENETIC ANALYSIS; GREAT VESSELS TRANSPOSITION; HUMAN; INFANT; LEBANON; MALE; NEWBORN; NONSENSE MUTATION; PEDIGREE; PENETRANCE; PRIORITY JOURNAL; RELATIVE; SUPERIOR CAVA VEIN; X CHROMOSOME; X CHROMOSOME LINKAGE;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PENETRANCE; POINT MUTATION; SEX FACTORS; TRANSCRIPTION FACTORS; TRANSPOSITION OF GREAT VESSELS; X CHROMOSOME; ZINC FINGERS;

EID: 0033822768     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200526     Document Type: Article

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