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Identification of three novel mutations in in Asian-Indians with Pachydermoperiostosis.

作者信息

Pasumarthi Divya, Ranganath Priya, Mandal Kausik, Lakshmi N Dhanya, Dalal Ashwin, Aggarwal Shagun

机构信息

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500 082, Telangana, India.

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad 500 082, Telangana, India.

出版信息

Indian J Med Res. 2023 Sep;158(3):319-323. doi: 10.4103/ijmr.ijmr_3353_21.

DOI:10.4103/ijmr.ijmr_3353_21
PMID:37861627
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10720970/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/f884f5edcdfb/IJMR-158-319-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/9b16ce497bd2/IJMR-158-319-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/1e9eeee76aec/IJMR-158-319-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/f884f5edcdfb/IJMR-158-319-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/9b16ce497bd2/IJMR-158-319-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/1e9eeee76aec/IJMR-158-319-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/796b/10720970/f884f5edcdfb/IJMR-158-319-g003.jpg

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Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.数字棒状指（趾）畸形作为 HPGD 致病性变异引起的肥大性骨关节病的主要表现，见于三个印度家系。
Clin Dysmorphol. 2020 Jul;29(3):123-126. doi: 10.1097/MCD.0000000000000324.
3
Bisphosphonates use in Pachydermoperiostosis.
双膦酸盐类药物在厚皮性骨膜病中的应用。
J Assoc Physicians India. 2019 Sep;67(9):87-90.
4
Complete primary pachydermoperiostosis: A case report from Jordan and review of literature.完全性原发性厚皮性骨膜病：来自约旦的一例病例报告及文献综述。
Clin Case Rep. 2019 Jan 9;7(2):346-352. doi: 10.1002/ccr3.1971. eCollection 2019 Feb.
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Pachydermoperiostosis Mimicking Acromegaly: A Case Report.类肢端肥大症厚皮性骨膜病：一例报告
Indian Dermatol Online J. 2018 May-Jun;9(3):182-184. doi: 10.4103/idoj.IDOJ_230_17.
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