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...

Cur síos iomlán

Sábháilte in:
Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Suvarna Magar (Údar), Naziya Perveen (Údar), Anjali Kale (Údar), Srishti Agrawal (Údar)
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

Sonraí sealbhúcháin ó 3rd Floor Main Library
Gairmuimhir: A1234.567
Cóip 1 Ar fáil