The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype-Reference-Cited by-同舟云学术

The first case of antenatal presentation in COG8‐congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype

Published:2019-01-28 Issue:3 Volume:179 Page:480-485
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Arora Veronica¹^ORCID,Puri Ratna Dua¹^ORCID,Bhai Pratibha¹,Sharma Nidhish²,Bijarnia–Mahay Sunita¹,Dimri Nandita²,Baijal Ashok²,Saxena Renu¹,Verma Ishwar¹

Affiliation:

1. Institute of Genetics and Genomics, Sir Ganga Ram Hospital New Delhi India

2. Department of Fetal Medicine, Sir Ganga Ram Hospital New Delhi India

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61030

Reference37 articles.

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3. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

4. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

5. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

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