De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Titel:
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Auteur:
Ehmke, Nadja Graul-Neumann, Luitgard Smorag, Lukasz Koenig, Rainer Segebrecht, Lara Magoulas, Pilar Scaglia, Fernando Kilic, Esra Hennig, Anna F. Adolphs, Nicolai Saha, Namrata Fauler, Beatrix Kalscheuer, Vera M. Hennig, Friederike Altmüller, Janine Netzer, Christian Thiele, Holger Nürnberg, Peter Yigit, Gökhan Jäger, Marten Hecht, Jochen Krüger, Ulrike Mielke, Thorsten Krawitz, Peter M. Horn, Denise Schuelke, Markus Mundlos, Stefan Bacino, Carlos A. Bonnen, Penelope E. Wollnik, Bernd Fischer-Zirnsak, Björn Kornak, Uwe