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Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome

BACKGROUND: Congenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Although several causative genes have been reported in patients with CCMC, the genetic etiology of CCMC is yet to...

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Detalles Bibliográficos
Autores principales:	Lin, Zhi-Bo, Li, Jin, Ye, Lu, Sun, Hai-Sen, Yu, A-Yong, Chen, Shi-Hao, Li, Fen-Fen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840263/ https://www.ncbi.nlm.nih.gov/pubmed/35148715 http://dx.doi.org/10.1186/s12886-022-02291-4

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