ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Molecular Genetics and Metabolism

Volumn 109, Issue 3, 2013, Pages 289-295

  Rohrbach, Marianne ^a   Spencer, Helen L ^b,c   Porter, Louise F ^b,c   Burkitt Wright, Emma M M ^b,c   Bürer, Céline ^a   Janecke, Andreas ^d   Bakshi, Madhura ^e   Sillence, David ^e   Al Hussain, Hailah ^f   Baumgartner, Matthias ^a   Steinmann, Beat ^a   Black, Graeme C M ^b,c   Manson, Forbes D C ^b,c   Giunta, Cecilia ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

Brittle cornea; Genetic heterogeneity; Keratoconus; Keratoglobus; PRDM5 and ZNF469; Single exon gene

Indexed keywords

CLUSTERIN; DORZOLAMIDE PLUS TIMOLOL; EYE DROPS; GLYPICAN 6; LATANOPROST; MESSENGER RNA; PROCOLLAGEN C PROTEINASE; PROTEIN; THROMBOSPONDIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; ASTIGMATISM; AUTOSOMAL RECESSIVE DISORDER; BRITTLE CORNEA SYNDROME; CASE REPORT; CHILD; CONNECTIVE TISSUE DISEASE; CORNEA TRANSPLANTATION; EXON; EXTRACELLULAR MATRIX; FEMALE; GENE; GENE CONTROL; GENE MUTATION; GLAUCOMA; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; PRDM5 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SPECTACLES; STRABISMUS; ZNF469 GENE;

EID: 84891372258     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.014     Document Type: Article

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