Neonatal presentation of COG6‐CDG with prominent skin phenotype-Reference-Cited by-同舟云学术

Neonatal presentation of COG6‐CDG with prominent skin phenotype

Published:2020-08-07 Issue:1 Volume:55 Page:51-58
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Komlosi Katalin¹^ORCID,Gläser Selina¹,Kopp Julia¹,Hotz Alrun¹,Alter Svenja¹,Zimmer Andreas D.¹,Beger Carmela²,Heinzel Stefan³,Schmidt Christoph⁴,Fischer Judith¹

Affiliation:

1. Institute of Human Genetics, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany

2. Human Genetics Praxis Krone Laboratory Bielefeld Germany

3. Neonatology Unit, Department of Pediatrics Children's Center Bethel, Evangelical Hospital Bethel Bielefeld Germany

4. Genetikum®, Center for Human Genetics Neu‐Ulm Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12154

Reference24 articles.

1. Restrictive Dermopathy: Four Case Reports and Structural Skin Changes

2. Restrictive Dermopathy in Two Brothers

3. Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

4. The challenge of CDG diagnosis

5. Genetics of Inherited Ichthyoses and Related Diseases

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