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Article

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review.

The Journal of dermatology - 1 Mar 2020

Li Zhongtao, Xie Yao, Xiao Qiankun, Wang Lin

Abstract excerpt

Terminal osseous dysplasia with pigmentary defects (TODPD) is an extremely rare X-linked dominant syndrome characterized by pigmentary skin defects, cutaneous digital fibromas and skeletal anomalies. Recent studies have identified that TODPD is caused by a unique variant, c.5217G>A (p.Val1724_Thr1739del), in the FLNA gene, which could in turn lead to the elastic fiber abnormality in TODPD. We herein present a...

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PMID: 31919883
DOI: 10.1111/1346-8138.15209

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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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