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These data provide convincing evidence that XHC is genetically extremely heterogeneous.<\/jats:p>","DOI":"10.1136\/jmg.33.2.103","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"103-106","source":"Crossref","is-referenced-by-count":20,"title":["Five novel mutations in the L1CAM gene in families with X linked hydrocephalus."],"prefix":"10.1136","volume":"33","author":[{"given":"S M","family":"Gu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Orth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Veske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Enders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Klunder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Schlosser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W","family":"Engel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Schwinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/S0888-7543(05)80254-X","article-title":"The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52","volume":"14","author":"Lyonnet, S.; Pelet, A.; Royer, G.","year":"1992","unstructured":"Lyonnet S, Pelet A, Royer G, et al. The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52. Genomics 1992;14:508-10.","journal-title":"Genomics"},{"key":"ref_2","first-page":"307","article-title":"Further localization of X-linked hydrocephalus in the chromosomal region Xq28","volume":"51","author":"Willems, P.J.; Vits, L.; Raeymaekers, P.","year":"1992","unstructured":"Willems PJ, Vits L, Raeymaekers P, et al. Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Am JHum Genet 1992;51:307-15.","journal-title":"Am JHum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/ng1092-107","article-title":"Aberrant splicing of neural cell adhesion molecule LI mRNA in a family with X-linked hydrocephalus","volume":"2","author":"Rosenthal, A.; Jouet, M.; Kenwrick, S.","year":"1992","unstructured":"Rosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule LI mRNA in a family with X-linked hydrocephalus. 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X-linked spastic paraplegia (SPG1), MASA syndrome, and X-linked hydrocephalus result from mutations in the LI gene. Nature Genet 1994;7:402-7.","journal-title":"Nature Genet"},{"key":"ref_6","first-page":"1304","article-title":"New domains of neural cell-adhesion molecule Li implicated in X-linked hydrocephalus and MASA syndrome","volume":"56","author":"Jouet, M.; Moncla, A.; Paterson, J.","year":"1995","unstructured":"Jouet M, Moncla A, Paterson J, et al. New domains of neural cell-adhesion molecule Li implicated in X-linked hydrocephalus and MASA syndrome. Am Hum Genet 1995;56: 1304-14.","journal-title":"Am Hum Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ng0893-421","article-title":"A duplication in the LICAM gene associated with X-linked hydrocephalus","volume":"4","author":"G, Van Camp; L, Vits; P, Coucke","year":"1993","unstructured":"Van Camp G, Vits L, Coucke P, et al. A duplication in the LICAM gene associated with X-linked hydrocephalus. Nature Genet 1993;4:421-5.","journal-title":"Nature Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1093\/hmg\/3.4.671","article-title":"Identification of a 5'splice site mutation in intron 4 of LI CAM gene in a X-linked hydrocephalus family","volume":"3","author":"Coucke, P.; Vits, L.; Van Camp, G.","year":"1994","unstructured":"Coucke P, Vits L, Van Camp G, et al. Identification of a 5'splice site mutation in intron 4 of LI CAM gene in a X-linked hydrocephalus family. Hum Mol Genet 1994;3: 671-3.","journal-title":"Hum Mol Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1038\/ng0794-408","article-title":"MASA syndrome is due to mutations in the neural cell adhesion gene LI CAM","volume":"7","author":"Vits, L.; Van Camp, G.; Coucke, P.","year":"1994","unstructured":"Vits L, Van Camp G, Coucke P, et al. MASA syndrome is due to mutations in the neural cell adhesion gene LI CAM. Nature Genet 1994;7:408-13.","journal-title":"Nature Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2255","DOI":"10.1093\/hmg\/3.12.2255","article-title":"X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the LI CAM gene","volume":"3","author":"Fransen, E.; Schrander-Stumpel, C.; Vits, L.; Coucke, P.; Van Camp, G.; Willems, P.J.","year":"1994","unstructured":"Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the LI CAM gene. Hum Mol Genet 1994;3:2255-6.","journal-title":"Hum Mol Genet"},{"key":"ref_11","article-title":"Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids","volume-title":"Methods in molecular genetics","author":"Bunge, S.; Fuchs, S.; Gal, A.","year":"press).","unstructured":"Bunge S, Fuchs S, Gal A. Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. In: Adolph KW, ed. Methods in molecular genetics. Orlando, Florida: Academic Press (in press)."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1038\/334701a0","article-title":"Neural adhesion molecule LI as a member of the immunoglobulin superfamily with binding domains similar to fibronectin","volume":"334","author":"Moos, M.; Tacke, R.; Scherer, H.","year":"1988","unstructured":"Moos M, Tacke R, Scherer H, et al. Neural adhesion molecule LI as a member of the immunoglobulin superfamily with binding domains similar to fibronectin. 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