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Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1~25.2). The deletion was situated on the maternally derived chromosome and by molecular analysis the deletion break...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Wahlstrom, J., Uller, A., Johannesson, T., Holmqvist, D., Darnfors, C., Vujic, M., Tonnby, B., Hagberg, B., Martinsson, T.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 1999
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734344/
https://ncbi.nlm.nih.gov/pubmed/10227408
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