Compound heterozygous mutations in the LTBP2 gene associated with microspherophakia in a Chinese patient: a case report and literature review

Abstract Background Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-beta (TGF-beta) binding proteins(LTBP2) gene mutation is the predominant c...

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Autores principales: Manhua Xu (Autor), Kaiming Li (Autor), Weimin He (Autor)
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Publicado: BMC, 2021-09-01T00:00:00Z.
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