Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

Abstract Background The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy. This disorder is caused by loss‐of‐function alte...

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Bibliographic Details
Main Authors: Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D’Elia, Maria Iascone, Giuseppe Damante
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
BBSOAS
monozygotic twins
NR2F1
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1278

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