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Publications by Jieun Seo
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
American Journal of Human Genetics
Genetics
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Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
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Hypomorphic Mutations Identified in the Candidate Leber Congenital Amaurosis Gene CLUAP1
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SLC10A7 Mutations Cause a Skeletal Dysplasia With Amelogenesis Imperfecta Mediated by GAG Biosynthesis Defects
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Vasculitis as a Major Morbidity Factor in Patients With Hypomorphic RAG Mutations
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Mutations in SOX2 Cause Anophthalmia
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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
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Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
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Multiple Epiphyseal Dysplasia Mutations inMATN3 Cause Misfolding of the A-Domain and Prevent Secretion of Mutant Matrilin-3
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ACTN1 Mutations Cause Congenital Macrothrombocytopenia
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