Blau Syndrome Associated with Nucleotide-binding Oligomerization Domain Containing 2 Mutation in a Baby from Malaysia

Blau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2). Usually, dermatitis is the first symptom that appears in the 1(st) year of life. About 220 BS cases with confirmed NOD2 mutation ha...

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Detalles Bibliográficos
Autores principales: Leong, Kin Fon, Sato, Reiko, Oh, Glenda Guek Khim, Surana, Uttam, Pramono, Zacharias Aloysius Dwi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749758/
https://www.ncbi.nlm.nih.gov/pubmed/31543536
http://dx.doi.org/10.4103/ijd.IJD_44_18

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