A Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations

BACKGROUND: Weill–Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease. Clinical manifestations include microspherophakia (MSP), high myopia, ectopia lentis, open-angle glaucoma, short stature, short fingers, joint stiffness, and (occasionally) cardiovascular defects. At pre...

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Detalles Bibliográficos
Autores principales: Lin, ZhiHong, Zhu, MinJuan, Deng, HongWei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8096439/
https://www.ncbi.nlm.nih.gov/pubmed/33958902
http://dx.doi.org/10.2147/RMHP.S307290

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8096439/
https://www.ncbi.nlm.nih.gov/pubmed/33958902
http://dx.doi.org/10.2147/RMHP.S307290

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