Case Reports
doi: 10.1136/jmg.28.6.429-a.
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28
- PMID: 1870106
- PMCID: PMC1016918
- DOI: 10.1136/jmg.28.6.429-a
Item in Clipboard
Case Reports
X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28
J Med Genet.
1991 Jun.
No abstract available
Similar articles
-
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.J Med Genet. 1992 Mar;29(3):215. doi: 10.1136/jmg.29.3.215-a. J Med Genet. 1992. PMID: 1552562 Free PMC article. No abstract available.
-
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.Genet Couns. 1994;5(1):1-10. Genet Couns. 1994. PMID: 8031529
-
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.J Med Genet. 1995 Jul;32(7):549-52. doi: 10.1136/jmg.32.7.549. J Med Genet. 1995. PMID: 7562969 Free PMC article.
-
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.J Neurol Sci. 1996 May;137(2):131-8. doi: 10.1016/0022-510x(95)00349-7. J Neurol Sci. 1996. PMID: 8782167 Review.
-
CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.Eur J Hum Genet. 1995;3(5):273-84. doi: 10.1159/000472311. Eur J Hum Genet. 1995. PMID: 8556302 Review.
Cited by
-
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.Am J Hum Genet. 2003 Dec;73(6):1341-54. doi: 10.1086/380309. Epub 2003 Nov 18. Am J Hum Genet. 2003. PMID: 14628291 Free PMC article.
-
MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.J Med Genet. 1992 Mar;29(3):215. doi: 10.1136/jmg.29.3.215-a. J Med Genet. 1992. PMID: 1552562 Free PMC article. No abstract available.
-
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381. J Med Genet. 1993. PMID: 8320699 Free PMC article.
-
X-linked mental retardation: in pursuit of a gene map.Am J Hum Genet. 1993 Jun;52(6):1025-31. Am J Hum Genet. 1993. PMID: 8503437 Free PMC article. No abstract available.
-
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.Am J Hum Genet. 1995 Jun;56(6):1304-14. Am J Hum Genet. 1995. PMID: 7762552 Free PMC article.
References
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
