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Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review.

Molecular genetics & genomic medicine - 1 Jul 2026

Yang Zedong, Ma Yuchen, Wang Ju, Qu Jiangbo, Cui Shihua, Yu Dongyi

Abstract excerpt

BACKGROUND: Fanconi anemia (FA) is a rare autosomal recessive genetic disorder that typically presents with congenital malformations. The sites of these malformations exhibit significant clinical heterogeneity. To date, 22 FANC genes associated with FA have been identified; however, the relationship between pathogenic genotypes and the heterogeneity of clinical manifestations has yet to be systematically...

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Identifiers

PMID: 42432871
DOI: 10.1002/mgg3.70259
PMCID: PMC13354851

Genes

FANCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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