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  • A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

    Clinical and experimental dermatology

    Authors: Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie-Paule Gellé, Holger Thiele, Regina C Betz, Manuelle Viguier, Laurence Gusdorf

  • A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome.

    Lancet (London, England)

    Authors: Jakob Lillemoen Drivenes, Regina C Betz, Anette Bygum

  • Top publication

    GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.

    Nature genetics

    Authors: Tzung-Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W Gripp, Jean Tori Pantel, Magdalena Danyel, Martin Atta Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bézieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C Betz, Tim Bender, Kathrin Grundmann-Hauser, Tobias B Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J Lyon, Malte Spielmann, Christian P Schaaf, Stefan Mundlos, Markus M Nöthen, Peter M Krawitz

  • Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development.

    Human mutation

    Authors: Hannah L Marko, Nadine C Hornig, Regina C Betz, Paul-Martin Holterhus, Janine Altmüller, Holger Thiele, Marietta Fabiano, Hans-Udo Schweikert, Doreen Braun, Ulrich Schweizer

  • A woman with hyperpigmented macules and papules.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Viktor Schnabel, Matthias A Hermasch, Sabrina Wolf, Michael P Schön, Regina C Betz, Jorge Frank

  • Eine Frau mit hyperpigmentierten Maculae und Papeln.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Viktor Schnabel, Matthias A Hermasch, Sabrina Wolf, Michael P Schön, Regina C Betz, Jorge Frank

  • Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness.

    PloS one

    Authors: Lara M Hochfeld, Marta Bertolini, David Broadley, Natalia V Botchkareva, Regina C Betz, Susanne Schoch, Markus M Nöthen, Stefanie Heilmann-Heimbach

  • Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.

    American journal of medical genetics. Part A

    Authors: Nicole Cesarato, Maria Wehner, Mariam Ghughunishvili, Axel Schmidt, Daisy Axt, Holger Thiele, Michael J Lentze, Cristina Has, Matthias Geyer, Fitnat Buket Basmanav, Regina C Betz

  • Hair loss, facial dysmorphology, and skeletal alterations - a diagnostic challenge.

    International journal of dermatology

    Authors: Rogério Nabor Kondo, Fitnat Buket Basmanav, Sabrina Wolf, Lorivaldo Minelli, Jorge Frank, Regina C Betz

  • Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

    Cancer gene therapy

    Authors: Evgeniya Denisova, Dana Westphal, Harald M Surowy, Friedegund Meier, Barbara Hutter, Julia Reifenberger, Arno Rütten, Alexander Schulz, Mildred Sergon, Mirjana Ziemer, Benedikt Brors, Regina C Betz, Silke Redler