Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype-Reference-Cited by-同舟云学术

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype

Published:2020-07 Issue:7 Volume:63 Page:103941
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Starosta Rodrigo Tzovenos,Tarnowski Jessica,Vairo Filippo Pinto e,Raymond Kimiyo,Preston Graeme,Morava Eva

Funder

National Institute of Neurological Disorders and Stroke

National Center for Advancing Translational Sciences

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference34 articles.

1. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay;Al-Kateb;Am. J. Med. Genet.,2013

2. A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report;Al-Owain;Orphanet J. Rare Dis.,2010

3. A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality;Balakrishnan;J. Inherit. Metab. Dis.,2019

4. NR2F1 mutations cause optic atrophy with intellectual disability;Bosch;Am. J. Hum. Genet.,2014

5. Congenital disorders of glycosylation;Chang;Ann. Transl. Med.,2018

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Normal transferrin glycosylation does not rule out severe ALG1 deficiency;JIMD Reports;2024-04-16

2. Unravelling the conundrum of nucleolar NR2F1 localization: A comparative analysis of NR2F1 antibody-based approachesin vitroandin vivo;2024-01-02

3. Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2019–2020;Mass Spectrometry Reviews;2023-02-22

4. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome;Cells;2022-04-08

5. Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome;Indian Journal of Ophthalmology;2022