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

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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Bibliographic Details
Main Authors: Manhua Xu, Kaiming Li, Weimin He
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Medical Genomics
Subjects:
Microspherophakia
LTBP2
Compound heterozygous mutations
Ectopia lentis
Secondary glaucoma
Online Access:https://doi.org/10.1186/s12920-021-01080-0

Internet

https://doi.org/10.1186/s12920-021-01080-0

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