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Craniosynostosis is a feature of Costello syndrome

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

A role for sustained MAPK activity in the mouse ventral telencephalon

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez-Palmero, Agatha Schlüter, Alex MacKenzie, Alysia Kern Lovgren, Amelie J. Müller, Ange-Line Bruel, Anita Rauch, Anna Lindstrand, Anna C.E. Hurst, Anne-Marie Bisgaard, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Anya Revah-Politi, Aurora Pujol, Ben Pode-Shakked, Benjamin Cogné, Bernt Popp, Bert B.A. de Vries, Bertrand Isidor, Bitten Schönewolf-Greulich, Bjørn Ivar Haukanes, Bregje van Bon, Bryce A. Mendelsohn, Carlos E. Prada, Chad R. Haldeman-Englert, Charles Shaw-Smith, Christiane Zweier, Christine Coubes, Claudia A.L. Ruivenkamp, Conny M. van Ravenswaaij-Arts, David Gómez-Andrés, David B. Everman, Edgard Verdura, Elena Repnikova, Elisa Giorgio, Elisabeth Sarrazin, Esmée van Drie, Frances Elmslie, Frederic Tran Mau-Them, Gea Beunders, Giorgia Mandrile, Heidi Thiese, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Íñigo Marcos-Alcalde, Jenny E. Morton, Joseph T. Shieh, Juliane Hoyer, Juliann M. Savatt, Kathleen A. Leppig, Kimberly A. Aldinger, Lars Feuk, Lotte Kleinendorst, Malin Kvarnung, Maria Palomares-Bralo, Maria Johansson Soller, Marta Pacio-Míguez, Melanie O’Leary, Melissa Maria Boerrigter, Meredith J. Ross, Mieke M. van Haelst, Motti Shohat, Nicolas Gruchy, Paulino Gómez-Puertas, Rolph Pfundt, Sebastien Moutton, Setareh Moghadasi, Sharon Whiting, Simone F. Reiter, Sixto García-Miñaúr, Stella A. de Man, Stephan Waldmüller, Stephanie Arpin, Stephanie Spranger, Sulagna Kushary, Sumit Parikh, Thomas D. Challman, Thomas J. Dye, Tobias B. Haack, Tracy Gertler, V.A. Bjerregaard, Vahid Bahrambeigi, William B. Dobyns, Yuval E. Landau, Zeynep Tümer, Zohra Shad

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females