Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature-Reference-Cited by-同舟云学术

Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

Published:2021-06 Issue:8 Volume:185 Page:2546-2560
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gogoll Laura¹^ORCID,Steindl Katharina¹^ORCID,Joset Pascal¹^ORCID,Zweier Markus¹^ORCID,Baumer Alessandra¹^ORCID,Gerth‐Kahlert Christina²^ORCID,Tutschek Boris³⁴^ORCID,Rauch Anita¹⁵^ORCID

Affiliation:

1. Institute of Medical Genetics, University of Zurich Schlieren Switzerland

2. Division of Ophthalmology University Hospital Zurich Zurich Switzerland

3. Prenatal Zürich Zürich Switzerland

4. Medical Faculty Heinrich Heine University Düsseldorf Germany

5. University Children's Hospital Zurich Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62351

Reference38 articles.

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4. The Chaperone-Like Protein HYPK Acts Together with NatA in Cotranslational N-Terminal Acetylation and Prevention of Huntingtin Aggregation

5. Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

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