TGFBI corneal dystrophies: Reis-Bücklers corneal dystrophy (RBCD)

Kyung Eun Han; Woo Chan Park; R. Doyle Stulting

doi:10.1007/978-981-96-0131-8_2

TGFBI corneal dystrophies: Reis-Bücklers corneal dystrophy (RBCD)

Kyung Eun Han, Woo Chan Park, R. Doyle Stulting

Department of Ophthalmology

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Reis-Bücklers corneal dystrophy (RBCD) is caused by an autosomal dominantly inherited mutation in the TGFIBI gene, R124L (Arg124Leu) in chromosome 5q31.

Original language	English
Title of host publication	TGFBI-related Corneal Dystrophies
Subtitle of host publication	Clinical Findings, Cell Biology, and Genetics
Publisher	Springer Nature
Pages	5-12
Number of pages	8
ISBN (Electronic)	9789819601318
ISBN (Print)	9789819601301
DOIs	https://doi.org/10.1007/978-981-96-0131-8_2
State	Published - 20 Feb 2025

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© Springer Nature Singapore Pte Ltd. 2024. All rights reserved.

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abstract = "Reis-B{\"u}cklers corneal dystrophy (RBCD) is caused by an autosomal dominantly inherited mutation in the TGFIBI gene, R124L (Arg124Leu) in chromosome 5q31.",

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TGFBI corneal dystrophies: Reis-Bücklers corneal dystrophy (RBCD)

Abstract

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