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Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome. [PDF]
Hirai S, Mitsubuchi H, Matsumoto S.
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Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss. [PDF]
Ouqlani C +6 more
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Agenesis of the Corpus Callosum
Archives of Neurology, 1980A father and son with agenesis of the corpus callosum are described. An 11-year-old boy underwent clinical examination because of poor school performance. On physical and mental examinations he was normal, except for an enlarged head. Computerized tomographic (CT) scan showed agenesis of the corpus callosum.
R B, Lynn +3 more
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