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Article

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

American journal of medical genetics. Part A - 1 Mar 2020

Prasov Lev, Ullah Ehsan, Turriff Amy E, Warner Blake M, Conley Julie, Mark Paul R, Hufnagel Robert B, Huryn Laryssa A

Abstract excerpt

Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone-rod dystrophy and amelogenesis imperfecta. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at the National Eye Institute's Ophthalmic Genetics clinic between 2016 and 2018. Three unrelated sporadic cases were systematically evaluated for ocular...

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Identifiers

PMID: 32022389
DOI: 10.1002/ajmg.a.61484
PMCID: PMC8041260

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