Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia-Reference-Cited by-同舟云学术

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia

Published:2019-12-17 Issue:2 Volume:182 Page:296-302
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wei Heming¹,Wee Lynette W. Y.²,Born Bori³,Seang Sokheng³,Koh Mark J. A.²⁴^ORCID,Yee Ruixiang⁵,Lin Grace¹,Rafi'ee Khadijah¹,Mey Sithach³,Tan Ene‐Choo¹⁴^ORCID

Affiliation:

1. Research LaboratoryKK Women's & Children's Hospital Singapore

2. Dermatology ServiceKK Women's & Children's Hospital Singapore

3. Department of DermatologyPreah Kossamak Hospital Phnom Penh Cambodia

4. Paediatrics Academic Clinical ProgrammeSingHealth Duke‐NUS Graduate Medical School Singapore

5. Dental ServiceKK Women's & Children's Hospital Singapore

Funder

National Medical Research Council

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61447

Reference16 articles.

1. A new classification scheme for periodontal and peri-implant diseases and conditions - Introduction and key changes from the 1999 classification

2. wANNOVAR: annotating genetic variants for personal genomes via the web

3. A homozygous cathepsin C mutation associated with Haim-Munk syndrome

4. Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas - Diagnostic algorithm and principles of therapy

5. Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients

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