Molecular genetic and ocular findings in patients with Holt-Oram syndrome

Ophthalmic Genetics

Volumn 26, Issue 1, 2005, Pages 1-8

  Grünauer Kloevekorn, Claudia ^a,c   Reichel, Martin B ^b   Duncker, G I W ^a   Froster, Ursula G ^b  

^a MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c NONE   (Germany)

Author keywords

b wave latency; Holt Oram syndrome; Scotopic Erg; t box developing genes; TBX5

Indexed keywords

T BOX TRANSCRIPTION FACTOR; T-BOX TRANSCRIPTION FACTOR 5; TRANSCRIPTION FACTOR TBX5;

ADULT; ARTICLE; B WAVE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROOCULOGRAM; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HOLT ORAM SYNDROME; HUMAN; INTRAOCULAR PRESSURE; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; THUMB MALFORMATION; ADOLESCENT; ARM MALFORMATION; CONGENITAL HEART MALFORMATION; DOMINANT GENE; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; GENETICS; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; SYNDROME; VISUAL ACUITY; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; ADULT; DIAGNOSTIC TECHNIQUES, OPHTHALMOLOGICAL; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; FEMALE; GENES, DOMINANT; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; PEDIGREE; SYNDROME; T-BOX DOMAIN PROTEINS; UPPER EXTREMITY DEFORMITIES, CONGENITAL; VISUAL ACUITY;

EID: 17844408426     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810590918073     Document Type: Article

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