Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases-Reference-Cited by-同舟云学术

Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases

Published:2023-03 Issue:1 Volume:158 Page:
ISSN:2784-8671
Container-title:Italian Journal of Dermatology and Venereology
language:
Short-container-title:Ital J Dermatol Venereol

Author:

CALLEA Michele,BELLACCHIO Emanuele,CAMMARATA SCALISI Francisco,EL FEGHALY Jinia,EL-GHANDOUR Rabab K.,AVENDAÑO Andrea,YAVUZ Yasemine,DIOCIAIUTI Andrea,DIGILIO Maria C.,DI STAZIO Mariateresa,NOVELLI Antonio,ORANGES Teresa,FILIPPESCHI Cesare,PISANESCHI Elisa,JILANI Houweyda,GIGOLA Francesca,WILLOUGHBY Colin E.,MORABITO Antonino

Publisher

Edizioni Minerva Medica

Subject

Infectious Diseases,Dermatology

Link

https://www.minervamedica.it/pdf.php?cod=R23Y2023N01A0032

Reference29 articles.

1. Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

2. Ectodermal Dysplasia: Thoughts and Practical Concepts Concerning Disease Classification - The Role of Functional Pathways in the Molecular Genetic Diagnosis

3. Etiology and pathogenesis of ectodermal dysplasias

4. The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010

5. Ear nose throat manifestations in hypoidrotic ectodermal dysplasia

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