Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.(Val238Alafs*35) in PRDM5 gene causing brittle cornea...

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Detalles Bibliográficos
Autores principales: Selina, Agnes, John, Deepa, Loganathan, Lakshmi, Madhuri, Vrisha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7774228/
https://www.ncbi.nlm.nih.gov/pubmed/33120686
http://dx.doi.org/10.4103/ijo.IJO_325_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7774228/
https://www.ncbi.nlm.nih.gov/pubmed/33120686
http://dx.doi.org/10.4103/ijo.IJO_325_20

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