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A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay
BACKGROUND: We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. RESULT: Array comparative genomic hybridization (aCGH) revealed in the present patient...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4068972/ https://ncbi.nlm.nih.gov/pubmed/24963350 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-40 |
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