A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Frank Rutsch, Mary Macdougall, Changming Lu, Insa Buers, Olga Mamaeva, Yvonne Nitschke, Gillian i. Rice, Heidi Erlandsen, Hans gerd Kehl, Holger Thiele, Peter Nürnberg, Wolfgang Höhne, Yanick j. Crow, Annette Feigenbaum, Raoul c. Hennekam

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)275-282
JournalAmerican Journal of Human Genetics
Issue number2
Early online date22 Jan 2015
Publication statusPublished - 1 Feb 2015

Cite this