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Amyloidosis Cutis Dyschromica Caused by Compound Heterozygous GPNMB Mutations in a Chinese Pedigree

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Specialty Dermatology
Date 2024 Nov 1
PMID 39487057
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References
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Wang X, Sun J . A homozygous Y131X GPNMB mutation in a Chinese family with amyloidosis cutis dyschromica. Int J Dermatol. 2021; 61(4):e118-e120. DOI: 10.1111/ijd.15947. View

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Onoufriadis A, Hsu C, Eide C, Nanda A, Orchard G, Tomita K . Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica. J Invest Dermatol. 2019; 139(12):2550-2554.e9. DOI: 10.1016/j.jid.2019.05.021. View

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Yang C, Lin S, Chiang C, Wu Y, Hng W, Chang C . Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. Am J Hum Genet. 2018; 102(2):219-232. PMC: 5985536. DOI: 10.1016/j.ajhg.2017.12.012. View

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Qin W, Wang H, Zhong W, Bai J, Qiao J, Lin Z . Amyloidosis cutis dyschromica cases caused by GPNMB mutations with different inheritance patterns. J Dermatol Sci. 2021; 104(1):48-54. DOI: 10.1016/j.jdermsci.2021.08.002. View

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Wang H, Zhong Z, Wang X, Zheng L, Wang Y, Wang S . Case Report: Amyloidosis Cutis Dyschromica: Dermoscopy and Reflectance Confocal Microscopy and Gene Mutation Analysis of a Chinese Pedigree. Front Med (Lausanne). 2021; 8:774266. PMC: 8671158. DOI: 10.3389/fmed.2021.774266. View