Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

Author:

Deml Brett,Kariminejad Ariana,Borujerdi Razieh H. R.,Muheisen Sanaa,Reis Linda M.,Semina Elena V.

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference70 articles.

1. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology;D. Morrison;J. Med. Genet.,2002

2. Visual acuity in children with coloboma: Clinical features and a new phenotypic classification system;S.J. Hornby;Ophthalmology,2000

3. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum;S.E. Skalicky;JAMA Ophthalmol.,2013

4. Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study;K.M. Nakamura;Arch Ophthalmol,2011

5. Colobomatous macrophthalmia with microcornea syndrome: report of a new pedigree;E. Toker;Am J Med Genet A,2003

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