Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, intellectual disability, hypotonia, op...

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Detalles Bibliográficos
Autores principales: Kaiwar, Charu, Zimmermann, Michael T., Ferber, Matthew J., Niu, Zhiyv, Urrutia, Raul A., Klee, Eric W., Babovic-Vuksanovic, Dusica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701304/
https://www.ncbi.nlm.nih.gov/pubmed/28963436
http://dx.doi.org/10.1101/mcs.a002162

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