Functional and clinical analysis of five

X-linked hypohidrotic ectodermal dysplasia ectodysplasin A functional studies genotype-phenotype correlation in silico analysis serum EDA concentration variants of uncertain significance

Journal

Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621

Informations de publication

Date de publication:
2022
Historique:
received: 02 05 2022
accepted: 27 06 2022
entrez: 4 8 2022
pubmed: 5 8 2022
medline: 5 8 2022
Statut: epublish

Résumé

Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene

Identifiants

pubmed: 35923710
doi: 10.3389/fgene.2022.934395
pii: 934395
pmc: PMC9339965
doi:

Types de publication

Journal Article

Langues

eng

Pagination

934395

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Copyright © 2022 Gökdere, Schneider, Hehr, Willen, Schneider and Maier-Wohlfart.

Déclaration de conflit d'intérêts

PS and HS are inventors on patents related to the topic of this work. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Sare Gökdere (S)

Department of Pediatrics, Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.

Holm Schneider (H)

Department of Pediatrics, Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.

Ute Hehr (U)

Center for Human Genetics, Regensburg, Germany.

Laure Willen (L)

Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.

Pascal Schneider (P)

Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.

Sigrun Maier-Wohlfart (S)

Department of Pediatrics, Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.

Classifications MeSH