Publications:

Detailed corneal and genetic characteristics of a pediatric patient with macular corneal dystrophy - case report.

Bmc Ophthalmology

Nowińska, Anna A; Chlasta-Twardzik, Edyta E; Dembski, Michał M; Wróblewska-Czajka, Ewa E; Ulfik-Dembska, Klaudia K; Wylęgała, Edward E

Publication Date: 2021-07-23

Variant appearance in text: CHST6: 1A>T

PubMed Link: 34301210

Variant Present in the following documents:

• 12886_2021_Article_2041.pdf

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Novel compound heterozygous mutations in the CHST6 gene cause macular corneal dystrophy in a Han Chinese family.

Annals Of Translational Medicine

Huang, Yanxia Y; Yuan, Lamei L; Cao, Yanna Y; Tang, Renhong R; Xu, Hongbo H; Tang, Ziqian Z; Deng, Hao H

Publication Date: 2021-04

Variant appearance in text: CHST6: M1L

PubMed Link: 33987320

Variant Present in the following documents:

• atm-09-08-622.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: CHST6: 1A>T; M1L

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6.

Molecular Vision

Yaylacioglu Tuncay, Fulya F; Kayman Kurekci, Gülsüm G; Guntekin Ergun, Sezen S; Pasaoglu, Ozge Tugce OT; Akata, Rustu Fikret RF; Dincer, Pervin Rukiye PR

Publication Date: 2016

Variant appearance in text: CHST6: 1A>T

PubMed Link: 27829782

Variant Present in the following documents:

• Main text
• mv-v22-1267.pdf

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The IC3D classification of the corneal dystrophies.

Cornea

Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK

Publication Date: 2008-12

Variant appearance in text: CHST6: 1A>T

PubMed Link: 19337156

Variant Present in the following documents:

• Main text

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