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Article

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

Krausz Csilla, Riera-Escamilla Antoni, Chianese Chiara, Moreno-Mendoza Daniel, Ars Elisabet, Rajmil Osvaldo, Pujol Roser, Bogliolo Massimo, Blanco Ignacio, Rodríguez Ines, Badell Isabel, Ruiz-Castañé Eduard, Surrallés Jordi

Abstract excerpt

PURPOSE: In about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult-onset cases are missing. METHODS: (1) Exome sequencing (ES), (2) Sanger sequencing of FANCA, (3) diepoxybutane...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29904161
DOI: 10.1038/s41436-018-0037-1

Genes

FANCA

Provenance

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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