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Article

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype-Phenotype Correlation.

American journal of medical genetics. Part A - 1 Jul 2025

Scott Ethan M, Wenger Olivia K, Adams Matthew, Baple Emma L, Crosby Andew, Leslie Joseph

Abstract excerpt

Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in around 75% of affected individuals. Although no definitive...

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Identifiers

PMID: 40084550
DOI: 10.1002/ajmg.a.64047

Genes

FANCE

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