Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear recept...

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Bibliographic Details
Main Authors: Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2022-01-01
Series:Indian Journal of Ophthalmology
Subjects:
bosch–boonstra–schaaf optic atrophy syndrome
developmental delay
nr2f1
optic atrophy
whole-exome sequencing
Online Access:http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2762;epage=2764;aulast=Kocaaga

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http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2762;epage=2764;aulast=Kocaaga

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