Ophthalmic Genetics
 2022
DOI: 10.1080/13816810.2022.2068047
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Detailed phenotypic description of stromal corneal dystrophy in a large pedigree carrying the uncommon TGFBI p.Ala546Asp pathogenic variant

Leire Irusteta
1
,
Arturo Ramírez-Miranda
2
,
Alejandro Navas-Pérez
3
et al.
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