Associated Papers
Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review.
Untaaveesup S et al.
Acta Dermato-venereologica, 2025
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 2023
Severe hypertension caused by 17α-hydroxylase deficiency: A case report.
Zhao Y et al.
Heliyon, 2023
36967917 (PubMed )
Supplement: mmc1.docx
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
T-cell acute lymphoblastic leukemia with a rare chromosomal translocation presenting as leukemia cutis.
Arora P et al.
International Journal of Dermatology, 2022
A homozygous Y131X GPNMB mutation in a Chinese family with amyloidosis cutis dyschromica.
Wang X et al.
International Journal of Dermatology, 2022
Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns.
Qin W et al.
Journal of Dermatological Science, 2021
Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.
Chrystal PW et al.
Molecules (basel, Switzerland), 2021
[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].
Sha Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
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
Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree.
Wang H et al.
Frontiers in Medicine, 2021
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
Yang CF et al.
American Journal of Human Genetics, 2018
Common genetic risk factors of venous thromboembolism in Western and Asian populations.
Huang SS et al.
Genetics and Molecular Research : Gmr, 2016
Amyloidosis cutis dyschromica caused by compound heterozygous GPNMB mutations in a Chinese pedigree.
Zhong CJ et al.
Anais Brasileiros De Dermatologia, 0
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