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Article

A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.

Bone - 1 Sept 2008

Lin Ying, Zhao Juan, Chen Shipei, Zeng Xuebin, Du Qiong, Yang Yang, Lu Fang, Pu Yonghong, Yang Zhenglin

Abstract excerpt

We conducted clinical and genetic studies in a large Chinese family with nail-patella syndrome (NPS) involving multi-organ (such as limb, renal and eye) and investigated the functional consequences of a novel LMX1B mutation identified in the family. Twenty individuals at risk for inheriting NPS in the Chinese family participated in the study and a physical examination was performed and blood was drawn for DNA...

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Source

Identifiers

PMID: 18595794
DOI: 10.1016/j.bone.2008.04.025

Genes

NPS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.PMID 18595794Read ↗

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