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Article

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.

Familial cancer - 1 Jan 2016

Duong Bich-Thu, Savarirayan Ravi, Winship Ingrid

Abstract excerpt

Incidental findings are inevitable as clinical research and practice transitions from a single gene approach to a genomic approach. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male who underwent a molecular karyotype as part of an autism spectrum disorder research project. This unexpected result implies a predisposition to Hereditary Leiomyomatosis and Renal Cell Cancer...

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Identifiers

PMID: 26275867
DOI: 10.1007/s10689-015-9829-5

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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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Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.PMID 26275867Read ↗

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Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.Semantic proximity Read ↗

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A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.Semantic proximity Read ↗

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