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Article

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

BMC medical genomics - 17 Sept 2021

Xu Manhua, Li Kaiming, He Weimin

Abstract excerpt

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 cause of MSP. In our study, novel compound heterozygous mutations in the LTBP2 gene associated with MSP were reported, which...

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Identifiers

PMID: 34535142
DOI: 10.1186/s12920-021-01080-0
PMCID: PMC8449461

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