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Article

Clinical and genetic analysis of a case of O'Donnell-Luria-Rodan syndrome manifesting as growth retardation.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Apr 2024

Yuan Jingjing, Wang Yujun, Li Lusha, Xie Yanhong, Mo Zhaohui, Jin Ping

Abstract excerpt

O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the KMT2E (lysine methyltransferase 2E) gene. The Third Xiangya Hospital of Central South University admitted a 12-year and 9-month-old male patient who presented with growth retardation, intellectual disability, and distinctive facial features. Peripheral blood was collected from the patient, and DNA was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39019795
DOI: 10.11817/j.issn.1672-7347.2024.230359
PMCID: PMC11255198

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