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Article

Whole genome sequencing identifies ANXA3 and MTHFR mutations in a large family with an unknown equinus deformity associated genetic disorder.

Molecular biology reports - 1 Oct 2016

Zhang Zhiqun, Kong Zhuqing, Zhu Miao, Lu Wenxiang, Ni Lei, Bai Yunfei, Lou Yue

Abstract excerpt

The aim of this study was to characterize a previously uncharacterized genetic disorder associated with equinus deformity in a large Chinese family at the genetic level. Blood samples were obtained and whole genome sequencing was performed. Differential gene variants were identified and potential impacts on protein structure were predicted. Based on the control sample, several diseases associated variants were...

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Identifiers

PMID: 27475959
DOI: 10.1007/s11033-016-4047-2

Genes

ANXA3
MTHFR

Variants

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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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