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Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion
Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) × 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical featur...
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| Gepubliceerd in: | Hum Genome Var |
|---|---|
| Hoofdauteurs: | , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group UK
2019
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6804575/ https://ncbi.nlm.nih.gov/pubmed/31645985 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0079-1 |
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