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Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome
KEY CLINICAL MESSAGE: A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to...
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| Glavni autori: | , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Blackwell Publishing Ltd
2013
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3885256/ https://ncbi.nlm.nih.gov/pubmed/24416505 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.11 |
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