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  • Title: MASA syndrome: delineation of the clinical spectrum at prepubertal age.
    Author: Fryns JP, Schrander-Stumpel C, De Die-Smulders C, Borghgraef M, Van den Berghe H.
    Journal: Am J Med Genet; ; 43(1-2):402-7. PubMed ID: 1605218.
    Abstract:
    Here we describe the clinical and neurological findings in 2 brothers with MASA syndrome and the changes in phenotypic and neurological findings during the prepubertal period. MASA syndrome seems to be an X-linked mental retardation syndrome with progressively appearing manifestations and neurological signs, making clinical diagnosis before age 4 years difficult.
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