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Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.

This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might sh...

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Autors principals: Ying, K L, Oizumi, J, Curry, C J
Format: Artigo
Idioma:Inglês
Publicat: 1990
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017030/
https://ncbi.nlm.nih.gov/pubmed/2325107
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