Syndromic gingival fibromatosis associated with pathogenic variation in the voltage-gated potassium channel gene KCNH1: a case report and proposed treatment protocol by Nhat Minh Do, Pierre Klienkoff, Anne de Saint Martin, Alexandra Jimenez-Armijo, Elise Schaefer, Gaétan Caravello, Lucas Geyer, Sarah Baer, Laurent Marcoux, François Clauss, Agnès Bloch-Zupan

Get full text

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort by Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Jamal Ghoumid, Annick Toutain, Klaus Dieterich, Isabelle Marey, Brigitte Gilbert-Dussardier, Gwenaël Le Guyader, Christine Francannet, Elise Schaefer, Laurence Perrin, Mathilde Nizon, Claire Beneteau, David Genevieve, Marjolaine Willems, Laurence Faivre, Marianne Grimaldi, Judith Melki, Radka Stoeva, Audrey Putoux, Linda Pons, Karelle Benistan, Jeanne Amiel, Véronique Abadie

Get full text

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress by Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A Zieba, Fouzia Studer, Valerie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, Dan Lipsker, Florian Sandron, Steven McGinn, Anne Boland, Jean‐François Deleuze, Lauriane Kuhn, Johana Chicher, Philippe Hammann, Sylvie Friant, Christelle Etard, Elke Krüger, Jean Muller, Uwe Strähle, Hélène Dollfus

Get full text