Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian f...
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
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Full title
Author / Creator
Govindaraj, Geeta Madathil , Jain, Abhinav , Peethambaran, Geetha , Bhoyar, Rahul C. , Vellarikkal, Shamsudheen Karuthedath , Ganapati, Arvind , Sandhya, Pulukool , Edavazhippurath, Athulya , Dhanasooraj, Dhananjayan , Puthenpurayil, Jayakrishnan Machinary , Chakkiyar, Krishnan , Mishra, Anushree , Batra, Arushi , Punnen, Anu , Kumar, Sathish , Sivasubbu, Sridhar and Scaria, Vinod
Publisher
San Francisco: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
San Francisco: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Hyper-IgD syndrome (HIDS, OMIM #260920) is a rare autosomal recessive autoinflammatory disorder caused by pathogenic variants in the mevalonate kinase (MVK) gene. HIDS has an incidence of 1:50,000 to 1:5,000, and is thought to be prevalent mainly in northern Europe. Here, we report a case series of HIDS from India, which includes ten patients from...
Alternative Titles
Full title
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
Authors, Artists and Contributors
Author / Creator
Jain, Abhinav
Peethambaran, Geetha
Bhoyar, Rahul C.
Vellarikkal, Shamsudheen Karuthedath
Ganapati, Arvind
Sandhya, Pulukool
Edavazhippurath, Athulya
Dhanasooraj, Dhananjayan
Puthenpurayil, Jayakrishnan Machinary
Chakkiyar, Krishnan
Mishra, Anushree
Batra, Arushi
Punnen, Anu
Kumar, Sathish
Sivasubbu, Sridhar
Scaria, Vinod
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_2436141495
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2436141495
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0237999
