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The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P, et al. Schrander-Stumpel C, et al. Genet Couns. 1994;5(1):1-10. Genet Couns. 1994. PMID: 8031529
X-linked hydrocephalus and the X-linked MASA syndrome (Mental retardation. Adducted thumbs, Shuffling gait and Aphasia) both have a variable clinical spectrum with great overlap. ...On clinical and molecular grounds it has been hypothesized that both MASA …
X-linked hydrocephalus and the X-linked MASA syndrome (Mental retardation. Adducted thumbs, Shuffling gait and Aphasia) both h …
Genotype-phenotype correlation in L1 associated diseases.
Fransen E, Van Camp G, D'Hooge R, Vits L, Willems PJ. Fransen E, et al. J Med Genet. 1998 May;35(5):399-404. doi: 10.1136/jmg.35.5.399. J Med Genet. 1998. PMID: 9610803 Free PMC article.
Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 ass …
Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome …