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Hajdu-Cheney Syndrome: A case report with review of literature
Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse ba...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Radiol Case Rep |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
EduRad
2014
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4242121/ https://ncbi.nlm.nih.gov/pubmed/25426244 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3941/jrcr.v8i9.1833 |
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