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

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...

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Detalles Bibliográficos
Autores principales: Xu, Manhua, Li, Kaiming, He, Weimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8449461/
https://www.ncbi.nlm.nih.gov/pubmed/34535142
http://dx.doi.org/10.1186/s12920-021-01080-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8449461/
https://www.ncbi.nlm.nih.gov/pubmed/34535142
http://dx.doi.org/10.1186/s12920-021-01080-0

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