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Clinical Note

Neurology

Expanding association between BICD2 variants and brain malformations and associated lissencephaly

Jaeso Cho, Haeryung Kim, Seoungbok Lee, Jihoon G Yoon, HyeJin Kim, Minhye Kim, Seoyun Jang, Woojoong Kim, Soo Yeon Kim, Jong Hee Chae

Clin Exp Pediatr. 2024;67(1):54-56. Published online December 21, 2023

DOI: https://doi.org/10.3345/cep.2023.01095

Case Report

Immunology

A familial case of Blau syndrome caused by a novel NOD2 genetic mutation

Woojoong Kim, Eujin Park, Yo Han Ahn, Jiwon M. Lee, Hee Gyung Kang, Byung Joo Kim, Il-Soo Ha, Hae Il Cheong

Clin Exp Pediatr. 2016;59(Suppl 1):S5-S9. Published online November 30, 2016

Crossref 11

Blau syndrome (BS) is a rare autosomal dominant, inflammatory syndrome that is characterized by the clinical triad of granulomatous dermatitis, symmetric arthritis, and recurrent uveitis. Mutations in the nucleotide oligomerization domain 2 (NOD2) gene are responsible for causing BS. To date, up to 30 Blau-associated genetic mutations have been identified within this gene. We report a novel NOD2 genetic mutation...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S5

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