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Article

Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.

The British journal of dermatology - 1 Aug 2014

Wang W-M, Chen J-F, Liu S-T, Hsu Y-J, Liu Y-C, Huang S-M

Abstract excerpt

BACKGROUND: Loss of the DNA-binding activity of a transcription factor is detrimental to its function in responsive gene regulation. We diagnosed a Taiwanese family with nail-patella syndrome (NPS) whose members inherited the mutated LMX1b transcription factor with no DNA-binding homeodomain. The loss-of-function variants cause haploinsufficiency of LMX1b, leading to the clinical manifestation of NPS. The...

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Source

Identifiers

PMID: 24720768
DOI: 10.1111/bjd.13051

Genes

NPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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