Associated Papers
Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.
Kim MJ et al.
Orphanet Journal of Rare Diseases, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Genetics of human isolated hereditary hair loss disorders.
Basit S et al.
Clinical Genetics, 2015
A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families.
Ullah A et al.
Clinical and Experimental Dermatology, 2015
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.
Shimomura Y et al.
The Journal of Investigative Dermatology, 2006
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