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Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp
We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifes...
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| Publicat a: | Hum Genome Var |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785576/ https://ncbi.nlm.nih.gov/pubmed/27081533 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.20 |
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