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A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.
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Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature.
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Am J Med Genet A. 2022 Nov;188(11):3229-3235. doi: 10.1002/ajmg.a.62959. Epub 2022 Aug 20.
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A Case of Rhizomelic Chondrodysplasia Punctata in a Neonate.
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Identification and preliminary functional analysis of two novel congenital cataract associated mutations of Cx46 and Cx50.
Ye Y, Wu M, Qiao Y, Xie T, Yu Y, Yao K.
Ophthalmic Genet. 2019 Oct;40(5):428-435. doi: 10.1080/13816810.2019.1675179. Epub 2019 Oct 16.
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Assessment of long-term visual outcomes in aphakic children wearing scleral contact lenses.
Yehezkeli V, Hare I, Moisseiev E, Assia EI, Chacham I, Ela-Dalman N.
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Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.
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Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).