Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model-Reference-Cited by-同舟云学术

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model

Published:2015-02-23 Issue:11 Volume:24 Page:3119-3132
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Pfirrmann Thorsten,Emmerich Denise,Ruokonen Peter,Quandt Dagmar,Buchen Renate,Fischer-Zirnsak Björn,Hecht Jochen,Krawitz Peter,Meyer Peter,Klopocki Eva,Stricker Sigmar,Lausch Ekkehart,Seliger Barbara,Hollemann Thomas,Reinhard Thomas,Auw-Haedrich Claudia,Zabel Bernhard,Hoffmann Katrin,Villavicencio-Lorini Pablo

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/11/3119/14143363/ddv063.pdf

Reference44 articles.

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2. Biometry in X linked megalocornea: pathognomonic findings;Meire;Br. J. Ophthalmol.,1994

3. Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhauser syndrome and central corneal thickness;Davidson;PLoS One,2014

4. MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy;Mattos;Arq. Neuropsiquiatr.,2010

5. Spontaneous posterior dislocation of both lenses in a patient with Marfan's syndrome: 17 years without complications;Pelit;Int. Ophthalmol.,2005

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