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Article

Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.

American journal of medical genetics. Part A - 1 May 2023

Shah Suraj S, Fulton Anne, Jabroun Mireille, Brightman Diana, Simpson Brittany N, Bodamer Olaf A

Abstract excerpt

We aim to assess if genotype-phenotype correlations are present within ocular manifestations of Kabuki syndrome (KS) among a large multicenter cohort. We conducted a retrospective, medical record review including clinical history and comprehensive ophthalmological examinations of a total of 47 individuals with molecularly confirmed KS and ocular manifestations at Boston Children's Hospital and Cincinnati...

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Identifiers

PMID: 36891680
DOI: 10.1002/ajmg.a.63155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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