Associated Papers
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic
Familial Amyloidosis Cutis Dyschromica with GPNMB mutation: A Case Report and Literature Review.
Untaaveesup S et al.
Acta Dermato-venereologica, 2025
Functional Domains and Evolutionary History of the PMEL and GPNMB Family Proteins.
Chrystal PW et al.
Molecules (basel, Switzerland), 2021
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
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