Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3–4 days every 4–6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffer...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mediterr J Hematol Infect Dis
Hlavní autoři: Ghosh, Kanjaksha, Mishra, Kanchan, Shah, Avani, Patel, Parizad, Shetty, Shrimati
Médium: Artigo
Jazyk:Inglês
Vydáno: Università Cattolica del Sacro Cuore 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6402545/
https://ncbi.nlm.nih.gov/pubmed/30858956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4084/MJHID.2019.018
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky