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Unbalanced 13;18 translocation and Williams syndrome.

A 2 1/2 year old girl is reported with a de novo 13;18 unbalanced translocation and the facial features of Williams syndrome, subaortic stenosis, failure to thrive, and developmental delay. This case provides two candidate locations for the underlying molecular pathology of this sporadic syndrome. W...

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Autori principali: Colley, A, Thakker, Y, Ward, H, Donnai, D
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1992
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015826/
https://ncbi.nlm.nih.gov/pubmed/1552549
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