[Recurrent osteochondritis, desensitization therapy: a cause-effect relationship].
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Child↗
Biomedical subjects
D Theau
Publications and source records attributed to D Theau.
Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation.
A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X-linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X-linked traits.
Base Sequence↗
[A case of methemoglobinemia in an infant].
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Humans↗
[Severe dystonia syndrome successfully treated with bromocriptine and ataxia-telangiectasia syndrome in a single family].
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Ataxia Telangiectasia↗