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Article

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines.

American journal of medical genetics. Part A - 1 Aug 2021

Li Mindy, Glass Jennifer, Du Xiaoli, Dubbs Holly, Harr Margaret Horton, Falk Marni, Smolarek Teresa, Hopkin Robert J, Zackai Elaine, Sheppard Sarah E

Abstract excerpt

Trisomy 9 mosaic syndrome (T9M) is a rare condition characterized by multiorgan system involvement including craniofacial dysmorphisms, cardiac, genitourinary (GU), skeletal, and central nervous system (CNS) abnormalities. Although more than 100 cases have been reported in the literature, a comprehensive review has not been performed nor have clinical guidelines been established. Therefore, we describe the...

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Identifiers

PMID: 33969943
DOI: 10.1002/ajmg.a.62251
PMCID: PMC8662755

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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