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Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly.
Sewerin, Sebastian; Piontek, Jörg; Schönauer, Ria; Grunewald, Sonja; Rauch, Angelika; Neuber, Steffen; Bergmann, Carsten; Günzel, Dorothee; Halbritter, Jan.
Afiliação
  • Sewerin S; Division of Nephrology, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Piontek J; Clinical Physiology/ Nutritional Medicine, Charité - Universitätsmedizin Berlin, Berlin 12203, Germany.
  • Schönauer R; Division of Nephrology, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Grunewald S; Division of Dermatology, Venereology, and Allergology, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Rauch A; Division of Prosthodontics and Materials Science, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Neuber S; Center for Human Genetics, Bioscientia, Ingelheim 55218, Germany.
  • Bergmann C; Center for Human Genetics, Bioscientia, Ingelheim 55218, Germany.
  • Günzel D; Medizinische Genetik Mainz, Limbach Genetics, Mainz 55128, Germany.
  • Halbritter J; Clinical Physiology/ Nutritional Medicine, Charité - Universitätsmedizin Berlin, Berlin 12203, Germany.
Genes Dis ; 9(5): 1301-1314, 2022 Sep.
Article em En | MEDLINE | ID: mdl-35873018
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies / Prognostic_studies Idioma: En Ano de publicação: 2022 Tipo de documento: Article