Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig-Reference-Cited by-同舟云学术

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Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig

Published:2019-11-02 Issue:6 Volume:40 Page:549-552
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Esfandiari Hamed¹²,Mets Marilyn B.¹²,Kim Katherine H.³⁴,Kurup Sudhi P.¹²^ORCID

Affiliation:

1. Division of Ophthalmology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

2. Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

3. Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA

4. Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1692361

Reference13 articles.

1. Annals of Translational Medicine

2. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

3. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

4. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

5. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

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. Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG);Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-08

2. Expanded prenatal phenotype of ALG12‐associated congenital disorder of glycosylation including bilateral multicystic kidneys;American Journal of Medical Genetics Part A;2024-05-08

3. Ocular abnormalities among patients with Down syndrome;Alexandria Journal of Medicine;2022-12-31

4. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum;American Journal of Medical Genetics Part A;2021-09

5. Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes;American Journal of Medical Genetics Part A;2021-05-05

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