Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndrome.

Ralser, D J; Kumar, S; Borisov, O; Sarig, O; Richard, G; Wolf, S; Krawitz, P M; Sprecher, E; Kreiß, M; Betz, R C

Ralser, D J; Kumar, S; Borisov, O; Sarig, O; Richard, G; Wolf, S; Krawitz, P M; Sprecher, E; Kreiß, M; Betz, R C.

Afiliação

Ralser DJ; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Kumar S; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Borisov O; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Sarig O; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Richard G; GeneDx, Gaithersburg, MD, USA.
Wolf S; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.
Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Kreiß M; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Betz RC; Institute of Human Genetics, University of Bonn, Faculty of Medicine and University Hospital Bonn, Bonn, Germany.

Br J Dermatol ; 183(4): 756-757, 2020 10.

Article em En | MEDLINE | ID: mdl-32282935

Assuntos

Displasia Ectodérmica; Hipo-Hidrose; Ceratodermia Palmar e Plantar; Efeito Fundador; Humanos; Queratina-14/genética; Mutação/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Ceratodermia Palmar e Plantar / Hipo-Hidrose Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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