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Duplication of the Williams–Beuren critical region: case report and further delineation of the phenotypic spectrum
Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide...
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| Huvudupphovsmän: | , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BMJ Publishing Group
2009
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3030307/ https://ncbi.nlm.nih.gov/pubmed/21686693 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2008.0665 |
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