Novel compound heterozygous indel <scp> <i>ZMPSTE24</i> </scp> mutations in a Taiwanese male infant with restrictive dermopathy-Reference-Cited by-同舟云学术

Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy

Published:2022-05-02 Issue:8 Volume:49 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Hsu Tzu‐Chien¹^ORCID,Yu Pei‐Hsiu²³,Chang Yi‐Han¹⁴^ORCID,Guevara Bryan Edgar K.¹⁵,Tsai Meng‐Che⁶,Yang Mei‐Hui¹,Tsai Pei‐Yin²,Lee Julia Yu‐Yun¹,Chao Sheau‐Chiou¹,Hsu Chao‐Kai¹⁴⁷^ORCID

Affiliation:

1. Department of Dermatology, College of Medicine National Cheng Kung University Hospital, National Cheng Kung University Tainan Taiwan

2. Department of Obstetrics and Gynecology, College of Medicine National Cheng Kung University Hospital, National Cheng Kung University Tainan Taiwan

3. Department of Obstetrics and Gynecology Kuo General Hospital Tainan Taiwan

4. International Research Center of Wound Repair and Regeneration (iWRR) National Cheng Kung University Tainan Taiwan

5. Department of Dermatology Southern Philippines Medical Center Davao Philippines

6. Department of Pediatrics, College of Medicine National Cheng Kung University Hospital, National Cheng Kung University Tainan Taiwan

7. College of Medicine, Institute of Clinical Medicine National Cheng Kung University Tainan Taiwan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16404

Reference5 articles.

1. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

2. Phenotypic heterogeneity of ZMPSTE24 deficiency

3. Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity

4. A shared founder mutation underlies lethal restrictive dermopathy in the Austronesian aboriginal Atayal tribe of Taiwan

5. Restrictive dermopathy in a Taiwanese newborn