Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma

Author:

Protas Meredith E.1,Weh Eric2,Footz Tim3,Kasberger Jay4,Baraban Scott C.5,Levin Alex V.6,Katz L. Jay7,Ritch Robert8,Walter Michael A.3,Semina Elena V.2,Gould Douglas B.1

Affiliation:

1. Departments of Ophthalmology and Anatomy and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA

2. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA

3. Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada

4. Celgene Quanticel Research, San Francisco, CA 94158, USA

5. Department of Neurological Surgery, University of California, San Francisco, CA 94143, USA

6. Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA

7. Glaucoma Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA

8. Einhorn Clinical Research Center, The New York Eye and Ear Infirmary of Mount Sinai, New York, NY 10003, USA

Funder

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

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

Reference26 articles.

1. The mechanism of aqueous humour formation;To;Clin. Exp. Optom,2002

2. Anterior segment development relevant to glaucoma;Gould;Int. J. Dev. Biol,2004

3. A review of anterior segment dysgeneses;Idrees;Surv. Ophthalmol,2006

4. PITX2 and FOXC1 spectrum of mutations in ocular syndromes;Reis;Eur. J. Hum. Genet,2012

5. Axenfeld-rieger syndrome: New perspectives;Chang;Br. J. Ophthalmol,2012

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