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Article

Adults with paternal UPD14 causing Kagami-Ogata syndrome: Case report and review of the literature.

American journal of medical genetics. Part A - 1 Sept 2024

Smith Christopher S, Riddell Madison, Badalato Lauren, Au Ping Yee Billie

Abstract excerpt

Kagami-Ogata syndrome (KOS) is a clinically recognizable syndrome in the neonatal period. It is characterized by specific skeletal anomalies and facial dysmorphisms. It is typically caused by paternal uniparental disomy of chromosome 14, while epimutations and microdeletions are less commonly reported causes. In the pediatric setting, KOS is a well delineated syndrome. However, there is a dearth of literature...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38741340
DOI: 10.1002/ajmg.a.63625

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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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