Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced ex...

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Detalles Bibliográficos
Autores principales: Yoon, Je Moon, Jang, Mi-Ae, Ki, Chang-Seok, Kim, Sang Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713851/
https://www.ncbi.nlm.nih.gov/pubmed/26709265
http://dx.doi.org/10.3343/alm.2016.36.2.166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713851/
https://www.ncbi.nlm.nih.gov/pubmed/26709265
http://dx.doi.org/10.3343/alm.2016.36.2.166

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