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    Hum Genet. 1995 Jan;95(1):123-5.

    A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.

    Lüdecke B, Dworniczak B, Bartholomé K.

    Universitäts-Kinderklinik, Bochum, Germany.

    We have examined the molecular basis of Segawa's syndrome in six families with seven affected children. In one family two siblings with this disease carried a point mutation in exon 11 of the tyrosine hydroxylase gene, resulting in an amino acid exchange of Gln381 to Lys381. These results suggest that a change in tyrosine hydroxylase causes this form of Segawa's syndrome.

    PMID: 7814018 [PubMed - indexed for MEDLINE]

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