논문KCI 등재
A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome
대한신경과학회 (Korean Neurological Association)|2019.07|Journal of Clinical Neurology|제15권 제3호|pp. 407-409
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참고문헌 (1)
- Bae JS, "Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing", Genet Med, 18, pp.563~569 (2016)
관련 논문AI추천
Spondyloenchondrodysplasia with immune dysregulation: an under-the-radar cause of spasticityAbacıoğlu Hilmi Berkan, Çetin Alp, Çolak Ahmet Furkan, Yalçınkaya Berkay영남대학교 의과대학 · Journal of Yeungnam Medical Science2025 · 제42권 Moyamoya Disease, Still a Mysterious DisorderJong S. Kim대한뇌졸중학회 · 대한뇌졸중영문학회지2016 · 제18권 제1호Cerebrovascular Arteriopathy in Microcephalic Osteodysplastic Primordial Dwarfism Type IICheon Jung-Eun, Choi Young Hun, Cho Yeon Jin, Lee Seul Bi, Lee Seunghyun대한자기공명의과학회 · Investigative Magnetic Resonance Imaging2023 · 제27권 제2호Genotype–Phenotype Correlation of the <I>RNF213</I> R4810K Variant in Moyamoya Disease이경열, Taedong Ok, Yo Han Jung대한뇌졸중학회 · 대한뇌졸중영문학회지2023 · 제25권 제2호A Case of Familial Cold Autoinflammatory Syndrome with De Novo NLRP3 MutationYao Zhirong, Zhang Wenqing대한피부과학회 · Annals of Dermatology2021 · 제33권 제2호Persistent Trigeminal Subtype of Internal Carotid Artery Agenesis in CHARGE Syndrome나지훈, 이영목, 이현주대한신경과학회 · Journal of Clinical Neurology2023 · 제19권 제6호
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