Article
The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P
Abstract excerpt
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. Data from DNA linkage analysis placed the locus for both conditions at Xq28. On clinical and molecular grounds it has been hypothesized that both MASA syndrome and X-linked hydrocephalus are caused by a mutation in the same gene at Xq28....
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