Article

Confirmation of the<i>MIR204</i>n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma

2023-02-11

Abstract excerpt

<h4>ABSTRACT</h4> Four members of a three-generation family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204 . The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204 . The chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma...

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Literature Corpus work: 633ceccf-b1af-5c67-8eb7-f05f22dd149e
DOI: 10.1101/2023.02.09.23284763

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Confirmation of the<i>MIR204</i>n.37C>T heterozygous variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucomaDOI 10.1101/2023.02.09.23284763Read

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