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.

Afiliação

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 em En | MEDLINE | ID: mdl-35923710

Palavras-chave

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 Bases de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha

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