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Article

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.

MedScience - 1 Feb 2026

Zhang Jian-Hui, Xu Zi-Yan, Yu Hong-Ping, Wang Ruo-Li, Zhu Juan, Geng Zhen-Bo, Chen Li, Ruan Dan-Dan, Huang Fang-Meng, Gao Mei-Zhu, Li Yun-Fei, Zhang Xi-Kui, Zhang Li, Fang Zhu-Ting, Liao Li-Sheng, Zheng Xiao-Ling, Hu Bin, Luo Jie-Wei

Abstract excerpt

Fanconi anemia (FA; OMIM: 227650) is a rare genetic disorder characterized by bone marrow failure, congenital anomalies, and cancer predisposition. While FANCA mutations account for most FA cases, phenotypic overlap with other disorders complicates diagnosis. This study analyzes molecular diagnostic pathways for FANCA-related FA and establishes a hereditary differential diagnosis for ectrodactyly. A Chinese FA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fanconi Anemia Complementation Group A Protein

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Share to Limb Deformities, Congenital

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Identifiers

PMID: 41733882
DOI: 10.1007/s11684-026-1202-6

Genes

EHMT1
FANCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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