Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study

This study contributes to the expanding understanding of <i>TSPEAR</i>-related ED14 by providing novel genotype-phenotype correlations.

Authors

Rossana D’Angelo
Raffaella Ruggiero
Eloisa Evangelista (ORCID: https://orcid.org/0009-0000-7004-9633)
Monica Ianniello
Antonio Fico
Daniele De Brasi (ORCID: https://orcid.org/0000-0002-6079-4063)
Roberto Sirica (ORCID: https://orcid.org/0000-0002-3923-4889)
Fabio Acquaviva (ORCID: https://orcid.org/0000-0001-9192-1232)
Alessandro Ottaiano (ORCID: https://orcid.org/0000-0002-2901-3855)
Valentina De Angelis
Nadia Petrillo (ORCID: https://orcid.org/0009-0008-5131-9528)
Giovanni Savarese (ORCID: https://orcid.org/0009-0004-5274-3989)
Stephen W. Marcella

Institutions

Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale" (IT)
Azienda di Rilievo Nazionale ed Alta Specializzazione (IT)
Institute for the Study of Regionalism, Federalism and Self-Government (IT)

Publication Details

Journal: Genes
Published: 2025-04-29
DOI: https://doi.org/10.3390/genes16050519
Citations: 2
Primary Topic: RNA regulation and disease
Type: article
Field-Weighted Citation Impact: 1.61

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article

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study

Rossana D’Angelo, Raffaella Ruggiero, Eloisa Evangelista, Monica Ianniello et al.

Apr 29, 2025

2 citations

Genes

RNA regulation and disease

1.61

article

Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study

Rossana D’Angelo, Raffaella Ruggiero, Eloisa Evangelista, Monica Ianniello, Antonio Fico, Daniele De Brasi, Roberto Sirica, Fabio Acquaviva, Alessandro Ottaiano, Valentina De Angelis, Nadia Petrillo, Giovanni Savarese, Stephen W. Marcella

April 29, 2025article en

2 citations

Abstract

This study contributes to the expanding understanding of <i>TSPEAR</i>-related ED14 by providing novel genotype-phenotype correlations.

GenesVol. 16(5)

Istituto Nazionale Tumori IRCCS "Fondazione G. Pascale" (IT), Azienda di Rilievo Nazionale ed Alta Specializzazione (IT), Institute for the Study of Regionalism, Federalism and Self-Government (IT)

Openalex Percentile: Top 18%

RNA regulation and disease

1.61

DOI Open Access PDF OpenAlex

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Expanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study — Rossana D’Angelo, Raffaella Ruggiero, et al. · Genes (2025) | TGRS Research Map | TGRS