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

Author:

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

Funder

UBS Donation

Gottfried und Julia Bangerter-Rhyner-Stiftung

Action Medical Research in Manchester

Clinical Research Training Fellowship from the Wellcome Trust

UK National Institute for Health Research

Fight for Sight

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): report on 23 patients and review of the literature;Al-Hussain;Am. J. Med. Genet.,2004

2. Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation;Khan;Ophthalmic Genet.,2012

3. Brittle cornea syndrome: a hereditary disease of connective tissue with spontaneous corneal perforation;Steinhorst;Fortschr. Ophthalmol.,1988

4. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility;Zlotogora;Am. J. Med. Genet.,1990

5. Ocular Ehlers–Danlos syndrome with normal lysyl hydroxylase activity;Judisch;Arch. Ophthalmol.,1976

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