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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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Detalhes bibliográficos
Main Authors: Zhao, W., Petit, E., Gafni, R. I., Collins, M. T., Robey, P. G., Seton, M., Miller, K. K., Mannstadt, M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha: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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