Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome by Hiram Larangeira de Almeida Jr., Gabriela Rossi, Luciana Boff de Abreu, Cristina Bergamaschi, Alessandra Banaszeski da Silva, Kerstin Kutsche

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Clinically Relevant <i>KCNQ1</i> Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca²⁺ Sensitivity of the Channel by Christiane K. Bauer, Tess Holling, Denise Horn, Mário Nôro Laço, Ebtesam Abdalla, Omneya Magdy Omar, Malik Alawi, Kerstin Kutsche

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RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. by Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, Kristina Flato, Tess Holling, Martin Zenker, Georg Rosenberger, Kerstin Kutsche

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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functio... by Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche

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Genotype–Phenotype Correlation in Children: The Impact of <i>FBN1</i> Variants on Pediatric Marfan Care by Veronika C. Stark, Flemming Hensen, Kerstin Kutsche, Fanny Kortüm, Jakob Olfe, Peter Wiegand, Yskert von Kodolitsch, Rainer Kozlik-Feldmann, Götz C. Müller, Thomas S. Mir

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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing by Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil, Karegowda M. Arun, Pujar V. Suresh, Viralam S. Kiran, Sateesh Siddaiah, Shreesha Maiya, Shrikanth K. Venkatachalagupta, Neethukrishna Kausthubham, Fanny Kortüm, Isabella Rau, Alexandra Wey-Fabrizius, Lotte Van Den Heuvel, Josephina Meester, Lut Van Laer, Anju Shukla, Bart Loeys, Katta M. Girisha, Kerstin Kutsche

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