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Article

Identification of novel biallelic mutations in CFAP53 associated with fetal situs inversus totalis and literature review.

Journal of applied genetics - 1 May 2026

Guo Zhenglong, Tan Mengyao, Zhu Hongjie, Lou Guiyu, Xia Xiaoliang, Yang Wenke, Lv Yibing, Huang Jianmei, Wang Ruili, Hao Bingtao, Liao Shixiu

Abstract excerpt

Visceral heterotaxy is a congenital malformation characterized by the abnormal arrangement of left-right axis of visceral organs. To date, several genes implicated in the regulation of laterality patterning have been identified. Notably, CFAP53, also referred to as CCDC11, is involved in the regulation of ciliary motility, and mutations in this gene have been linked to a rare condition of heterotaxy. In this...

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Identifiers

PMID: 39969775
DOI: 10.1007/s13353-025-00950-y

Genes

CFAP53

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

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