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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| Autores principales: | , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Wolters Kluwer Medknow Publications
2020-01-01
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| Colección: | Indian Journal of Ophthalmology |
| Materias: | |
| Acceso en línea: | http://www.ijo.in/article.asp?issn=0301-4738;year=2020;volume=68;issue=11;spage=2545;epage=2547;aulast=Selina |
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