X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene

Journal Article X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene Get access Erik Fransen, Erik Fransen Search for other works by this author on: Oxford Academic PubMed Google Scholar Connle Schrander-Stumpel, Connle Schrander-Stumpel 1Department of Genetics and Cell Genetics, State University of Limburg6201 BX Maastricht, The Netherlands Search for other works by this author on: Oxford Academic PubMed Google Scholar Lieve Vits, Lieve Vits Search for other works by this author on: Oxford Academic PubMed Google Scholar Paul Coucke, Paul Coucke Search for other works by this author on: Oxford Academic PubMed Google Scholar Guy Van Camp, Guy Van Camp Search for other works by this author on: Oxford Academic PubMed Google Scholar Patrick J. Willems Patrick J. Willems * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 12, December 1994, Pages 2255–2256, https://doi.org/10.1093/hmg/3.12.2255 Published: 01 December 1994 Article history Received: 10 August 1994 Revision received: 04 October 1994 Accepted: 04 October 1994 Published: 01 December 1994