Article
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Human mutation - 1 Sept 2014
Schanze Denny, Neubauer Dorothée, Cormier-Daire Valerie, Delrue Marie-Ange, Dieux-Coeslier Anne, Hasegawa Tomonobu, Holmberg Eva E, Koenig Rainer, Krueger Gabriele, Schanze Ina, Seemanova Eva, Shaw Adam C, Vogt Julie, Volleth Marianne, Reis André, Meinecke Peter, Hennekam Raoul C M, Zenker Martin
Abstract excerpt
Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X gene (NFIX) were recently identified as the ca...
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