Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.

Rothmund-Thomson syndrome is a rare autosomal recessive syndrome characterised by poikiloderma of the face and extremities, alopecia, short stature, and skeletal defects. We report a patient with the characteristic features of Rothmund-Thomson syndrome who also had lymphocyte chromosome abnormalitie...

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Autori principali: Orstavik, K H, McFadden, N, Hagelsteen, J, Ormerod, E, van der Hagen, C B
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049982/
https://ncbi.nlm.nih.gov/pubmed/7966195
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