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April 28, 2024

Clinical and genetic analysis of a case of O

Jingjing Yuan Yujun Wang L H Li Yanhong Xie Zhaohui Mo Ping Jin

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Abstract

O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the

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Cite This Study

Yuan et al. (2024) studied this question.

synapsesocial.com/papers/68e6d417b6db64358765171e https://doi.org/10.11817/j.issn.1672-7347.2024.230359

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene2024 · 8 citations
2Two cases of Lowe syndrome caused by a novel mutation in OCRL gene in a family2024
3Clinical Variability Within the PLOD2-Associated Phenotypic Continuum: Three Novel Variants in Four Patients from a Descriptive Case SeriesCase Report · 2026
4Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2—A Case ReportCase Report · 2026
5OTULIN-related conditions: Report of a new case and review of the literature using GenIA2024 · 1 citations

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