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Odd MECP2-mutated R...
Odd MECP2-mutated Rett variant : long-term follow-up profile to age 25
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- Hagbeg, Bengt (författare)
- Department of Neuropediatrics, The Queen Silvia Children’s Hospital, Go¨teborg University,
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- Erlandsson, Anna (författare)
- Division of Clinical Genetics, Go¨teborg University, Go¨teborg, Sweden
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- Kyllerman, Mårten (författare)
- Department of Neuropediatrics, The Queen Silvia Children’s Hospital, Go¨teborg University,
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- Larsson, Gunilla, 1944- (författare)
- Umeå universitet,Sjukgymnastik,The handicap habilitation center, Skellefteå and Rett center, Östersund
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(creator_code:org_t)
- Elsevier BV, 2003
- 2003
- Engelska.
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Ingår i: European journal of paediatric neurology. - : Elsevier BV. - 1090-3798 .- 1532-2130. ; 7:6, s. 417-421
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical Rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Sjukgymnastik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Physiotherapy (hsv//eng)
Nyckelord
- Rett syndrome; Odd variant; Long-term follow-up
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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