Functional and clinical analysis of five <i>EDA</i> variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Gökdere, Sare; Schneider, Holm; Hehr, Ute; Willen, Laure; Schneider, Pascal; Maier-Wohlfart, Sigrun

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Gökdere, Sare; Schneider, Holm; Hehr, Ute; Willen, Laure; Schneider, Pascal; Maier-Wohlfart, Sigrun.

Afiliación

Gökdere S; Department of Pediatrics, Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.
Schneider H; Department of Pediatrics, Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.
Hehr U; Center for Human Genetics, Regensburg, Germany.
Willen L; Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.
Schneider P; Department of Biochemistry, University of Lausanne, Lausanne, Switzerland.
Maier-Wohlfart S; Department of Pediatrics, Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.

Front Genet ; 13: 934395, 2022.

Article en En | MEDLINE | ID: mdl-35923710

Palabras clave

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

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Genet Año: 2022 Tipo del documento: Article País de afiliación: Alemania

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