Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
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Author / Creator
Smirnov, Vasily , Grunewald, Olivier , Muller, Jean , Zeitz, Christina , Obermaier, Carolin D. , Devos, Aurore , Pelletier, Valérie , Bocquet, Béatrice , Andrieu, Camille , Bacquet, Jean-Louis , Lebredonchel, Elodie , Mohand-Saïd, Saddek , Defoort-Dhellemmes, Sabine , Sahel, José-Alain , Dollfus, Hélène , Zanlonghi, Xavier , Audo, Isabelle , Meunier, Isabelle , Boulanger-Scemama, Elise and Dhaenens, Claire-Marie
Publisher
Basel: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Basel: MDPI AG
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Scope and Contents
Contents
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presen...
Alternative Titles
Full title
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
Authors, Artists and Contributors
Author / Creator
Grunewald, Olivier
Muller, Jean
Zeitz, Christina
Obermaier, Carolin D.
Devos, Aurore
Pelletier, Valérie
Bocquet, Béatrice
Andrieu, Camille
Bacquet, Jean-Louis
Lebredonchel, Elodie
Mohand-Saïd, Saddek
Defoort-Dhellemmes, Sabine
Sahel, José-Alain
Dollfus, Hélène
Zanlonghi, Xavier
Audo, Isabelle
Meunier, Isabelle
Boulanger-Scemama, Elise
Dhaenens, Claire-Marie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8232641
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8232641
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms22126410
