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Lethal congenital contracture syndrome 1
lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34
Pronunciation
/ˈliːθəl kənˈʤɛnɪtəl kənˈtrakʧə ˈsɪndrəʊm 1/
/ˈliθəl kənˈʤɛnədl kənˈtræktʃər ˈsɪnˌdroʊm 1/
Categories
genetic disease
