Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3

Molecular Vision

Volumn 14, Issue , 2008, Pages 2010-2015

  Summers, Kim M ^a,b   Withers, Stephen J ^c   Gole, Glen A ^b   Piras, Sara ^d   Taylor, Peter J ^d  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c Genesis Clinical Genetics   (Australia)

^d PRINCE OF WALES HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PITX3; UNCLASSIFIED DRUG;

ADOLESCENT; ANTERIOR EYE CHAMBER DISEASE; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; ARTICLE; AUSTRALIA; BLINDNESS; CATARACT; CHILD; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; FAMILY ASSESSMENT; FEMALE; FETUS; FOLLOW UP; GENE DUPLICATION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIMIGRAVIDA; PRIORITY JOURNAL; VISUAL IMPAIRMENT;

ANTERIOR EYE SEGMENT; AUSTRALIA; BASE PAIRING; BASE SEQUENCE; CHILD; EXONS; FAMILY; FEMALE; GENE DUPLICATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MESODERM; MOLECULAR SEQUENCE DATA; OCEANIC ANCESTRY GROUP; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; TRANSCRIPTION FACTORS;

EID: 56149116122     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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