Article
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.
American journal of human genetics - 1 Feb 1992
Ellison K A, Fill C P, Terwilliger J, DeGennaro L J, Martin-Gallardo A, Anvret M, Percy A K, Ott J, Zoghbi H
Abstract excerpt
Rett syndrome is a neurologic disorder characterized by early normal development followed by regression, acquired deceleration of head growth, autism, ataxia, and stereotypic hand movements. The exclusive occurrence of the syndrome in females and the occurrence of a few familial cases with inheritance through maternal lines suggest that this disorder is most likely secondary to a mutation on the X chromosome. To...
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