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Tytuł pozycji:

Sporadic case of eruptive lentiginosis caused by Thr468Met missense mutation in the PTPN11 gene in a Han Chinese patient: first report and systematic literature review.

Tytuł:
Sporadic case of eruptive lentiginosis caused by Thr468Met missense mutation in the PTPN11 gene in a Han Chinese patient: first report and systematic literature review.
Autorzy:
Wang Z; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Sun L; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Fu X; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Wang Z; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Yu G; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Liu H; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Zhang F; Department of Dermatology, Shandong Provincial Hospital for Skin Diseases and Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University and Shandong Academy of Medical Sciences, 27397 Jingshi Lu, Jinan, 250022, China.
Źródło:
Clinical and experimental dermatology [Clin Exp Dermatol] 2021 Aug; Vol. 46 (6), pp. 1116-1118. Date of Electronic Publication: 2021 Apr 18.
Typ publikacji:
Case Reports; Letter; Systematic Review
Język:
English
Imprint Name(s):
Publication: 2023- : Oxford : Oxford University Press
Original Publication: Oxford : Blackwell Scientific Publications.
MeSH Terms:
Mutation, Missense*
Asian People/*genetics
Lentigo/*genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics
Adolescent ; Child ; Child, Preschool ; China ; Female ; Humans ; Lentigo/pathology ; Male ; Middle Aged ; Exome Sequencing
Grant Information:
2019LJ002 Academic promotion programme of Shandong First Medical University; 2019RC007 Academic promotion programme of Shandong First Medical University; 2019KJL003 the Youth Technology Innovation Support Project of Shandong Colleges and Universities; tsqn201812124 the Innovation Project of Shandong Academy of Medical Sciences and the Shandong Province Taishan Scholar Project
Substance Nomenclature:
EC 3.1.3.48 (PTPN11 protein, human)
EC 3.1.3.48 (Protein Tyrosine Phosphatase, Non-Receptor Type 11)
SCR Disease Name:
Lentiginosis Profusa
Entry Date(s):
Date Created: 20210419 Date Completed: 20220111 Latest Revision: 20221207
Update Code:
20240104
DOI:
10.1111/ced.14644
PMID:
33870545
Raport
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