Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome-Reference-Cited by-同舟云学术

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Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome

Published:2020 Issue:1 Volume:32 Page:77
ISSN:1013-9087
Container-title:Annals of Dermatology
language:en
Short-container-title:Ann Dermatol

Author:

Albalawi Alia M.¹^ORCID,Hashmi Jamil A.¹^ORCID,Alfadhli Fatima²^ORCID,Almatrafi Ahmad³^ORCID,Ramzan Khushnooda⁴^ORCID,Basit Sulman¹^ORCID

Affiliation:

1. Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunawwarah, Saudi Arabia.

2. Department of Genetic Diseases, King Abdulla Medical City-Madinah Maternity and Children Hospital, Almadinah Almunawwarah, Saudi Arabia.

3. Department of Biology, College of Science, Taibah University, Almadinah Almunawwarah, Saudi Arabia.

4. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Publisher

Korean Dermatological Association and The Korean Society for Investigative Dermatology

Subject

Dermatology

Link

https://synapse.koreamed.org/pdf/10.5021/ad.2020.32.1.77

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing;Archives of Oral Biology;2024-02

2. Novel compound heterozygous mutation in CTSC gene with response to ustekinumab;Journal of the European Academy of Dermatology and Venereology;2023-02-16

3. Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family;Brain and Development;2020-09

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