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Mosaic UPD(7q)mat in a patient with silver Russell syndrome
BACKGROUND: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromos...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Cytogenet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5645907/ https://ncbi.nlm.nih.gov/pubmed/29075327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0337-1 |
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