[HTML][HTML] Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome
A Kocaaga, S Yimenicioglu… - Indian Journal of …, 2022 - journals.lww.com
Abstract 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 receptor subfamily 2 group F member 1 (NR2F1) gene. To
date, approximately 80 patients have been reported with BBSOAS. Here, we describe a 3-
year-old infant with delayed development, intellectual disability, strabismus, nystagmus, and …
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 receptor subfamily 2 group F member 1 (NR2F1) gene. To
date, approximately 80 patients have been reported with BBSOAS. Here, we describe a 3-
year-old infant with delayed development, intellectual disability, strabismus, nystagmus, and …
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