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Mutations in NOTCH2 in patients with Hajdu–Cheney syndrome
SUMMARY: The Hajdu–Cheney syndrome is a very rare disease that affects several organ system, leading to severe osteoporosis and other abnormalities. We describe clinical and genetic findings of nine patients with this disease. INTRODUCTION: The Hajdu–Cheney syndrome (HCS) is a rare autosomal dominan...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4037401/ https://ncbi.nlm.nih.gov/pubmed/23389697 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00198-013-2298-5 |
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