Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review

Overview of attention for article published in Frontiers in Pediatrics, February 2021

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

Article in Journal of Central South University. Medical sciences. (April 2024)

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene

Article in Genes (March 2024)

Diagnóstico de deficiência intelectual sindrômica por sequenciamento de nova geração em famílias consanguíneas

Article (August 2022)

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