A case of 21q-syndrome with normal SOD-1
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Yoshifumi Yamamoto; N. Ogasawara; A. Gotoh; H. Komiya; H. Nakai; Y. Kuroki
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Article
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1979
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Springer
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English
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A female infant with del(21)(pter leads to q22.1--2:) constitution identified by G, Q, and R banding is reported. She had marked mental and physical retardation, generalized hypertonia, microphthalmia with persistent hypoplastic primary vitreous, blepharochalasia, high nasal bridge, micrognathia, ma