Novel Compound Heterozygous Mutations of <i>TGM1</i> Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma-Reference-Cited by-同舟云学术

Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma

Published:2023 Issue:Suppl 2 Volume:35 Page:S234
ISSN:1013-9087
Container-title:Annals of Dermatology
language:en
Short-container-title:Ann Dermatol

Author:

Gülnerman Elif Keleş¹^ORCID,Hanedan Nurcan¹^ORCID,Akillioglu Merve²^ORCID,Kayhan Gülsüm³^ORCID,Adişen Esra⁴^ORCID,Erdem Özlem⁵^ORCID,Hirfanoğlu İbrahim Murat¹^ORCID,Ergenekon Ebru¹^ORCID,Önal Eray Esra¹^ORCID,Türkyilmaz Canan¹^ORCID,Koç Esin¹^ORCID

Affiliation:

1. Department of Neonatology, Gazi University Faculty of Medicine, Ankara, Turkey.

2. Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey.

3. Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey.

4. Department of Dermatology, Gazi University Faculty of Medicine, Ankara, Turkey.

5. Department of Pathology, Gazi University Faculty of Medicine, Ankara, Turkey.

Publisher

XMLink

Subject

Dermatology

Link

https://anndermatol.org/pdf/10.5021/ad.21.134

Reference14 articles.

1. Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

2. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care

3. Inherited ichthyosis: Non-syndromic forms

4. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: The underlying genetic defects and pathomechanisms

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology