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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...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2013
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| Témata: | |
| On-line přístup: | 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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