Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2

Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2

Abstract We investigated the clinical and genetic features of patients with severe phenotype of granular corneal dystrophy type 2 (GCD2) associated with compound heterozygosity in the transforming growth factor-β-induced (TGFBI) gene. Patients with severe GCD2 underwent ophthalmic examination (best-...

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Autores principales: Ikhyun Jun, Yong Woo Ji, Seung-il Choi, Bo Ram Lee, Ji Sang Min, Eung Kweon Kim
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/8b718696abfc43ab9552600f5aead0be
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