NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome-Reference-Cited by-同舟云学术

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Published:2021-12-09 Issue:2 Volume:43 Page:128-142
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Billiet Benjamin¹,Amati‐Bonneau Patrizia²³,Desquiret‐Dumas Valérie²³,Guehlouz Khadidja¹,Milea Dan⁴,Gohier Philippe¹,Lenaers Guy²^ORCID,Mirebeau‐Prunier Delphine²³,den Dunnen Johan T.⁵^ORCID,Reynier Pascal²³^ORCID,Ferré Marc²^ORCID

Affiliation:

1. Département d'Ophtalmologie Centre Hospitalier Universitaire d'Angers Angers France

2. Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS Université d'Angers Angers France

3. Laboratoire de Biochimie et Biologie moléculaire Centre Hospitalier Universitaire d'Angers Angers France

4. Singapore Eye Research Institute, Singapore National Eye Centre Duke‐NUS Singapore

5. Department of Human Genetics, Department of Clinical Genetics Leiden University Medical Centre Leiden The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24305

Reference47 articles.

1. COUP-TFI promotes radial migration and proper morphology of callosal projection neurons by repressing Rnd2 expression

2. NR2F1haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay

3. COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth

4. Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy

5. The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease

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