Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family-Reference-Cited by-同舟云学术

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Published:2016-09 Issue:5 Volume:23 Page:571-576
ISSN:1319-562X
Container-title:Saudi Journal of Biological Sciences
language:en
Short-container-title:Saudi Journal of Biological Sciences

Author:

Alkhiary Yaser Mohammad,Jelani Musharraf^ORCID,Almramhi Mona Mohammad,Mohamoud Hussein Sheikh Ali,Al-Rehaili Rayan,Al-Zahrani Hams Saeed,Serafi Rehab,Yang Huanming,Al-Aama Jumana Yousuf

Funder

Deanship of Scientific Research

King Abdulaziz University

Publisher

Elsevier BV

Subject

General Agricultural and Biological Sciences

Reference19 articles.

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3. Mapping of Papillon–Lefevre syndrome to the chromosome 11q14 region;Fischer;Eur. J. Hum. Genet.,1997

4. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. A clinical and genetic analysis of the Papillon-Lefevre syndrome;Gorlin;J. Pediatr.,1964

5. The Papillon–Lefevre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature;Haneke;Hum. Genet.,1979

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1. A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review;Molecular Genetics & Genomic Medicine;2021-05-05

2. Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome;Annals of Dermatology;2020

3. Papillon-Lefèvre Syndrome;Encyclopedia of Medical Immunology;2020

4. Papillon-Lefèvre Syndrome and Basal Cell Carcinoma: A Case Study;Case Reports in Oncology;2019-06-05

5. Papillon-Lefèvre Syndrome;Encyclopedia of Medical Immunology;2018