Monogenic Autoinflammatory Disease Due to Blau Syndrome with Nucleotide Oligomerization Domain 2 Gene Mutation in an Indian Family
Background: Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by a triad of dermatitis, arthritis, and uveitis. We report Blau syndrome in a child who had been symptomatic for years, without the typical cli...
Sábháilte in:
Príomhchruthaitheoirí: | , , , |
---|---|
Formáid: | LEABHAR |
Foilsithe / Cruthaithe: |
Wolters Kluwer Medknow Publications,
2024-05-01T00:00:00Z.
|
Ábhair: | |
Rochtain ar líne: | Connect to this object online. |
Clibeanna: |
Cuir clib leis
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
|
Ar líne
Connect to this object online.3rd Floor Main Library
Gairmuimhir: |
A1234.567 |
---|---|
Cóip 1 | Ar fáil |