Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review-Reference-Cited by-同舟云学术

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

Published:2020-01-09 Issue:3 Volume:47 Page:295-299
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Li Zhongtao¹^ORCID,Xie Yao¹,Xiao Qiankun²,Wang Lin¹

Affiliation:

1. Department of Dermatovenereology West China Hospital Sichuan University Chengdu China

2. Department of Radiology Sichuan Cancer Hospital and Institute Sichuan Cancer Center School of Medicine University of Electronic Science and Technology Chengdu China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15209

Reference15 articles.

1. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome

2. Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

3. Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects

4. Terminal osseous dysplasia with pigmentary defects ( TODPD ) due to a recurrent filamin A ( FLNA ) mutation

5. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations

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