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3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient
3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome. Here we describe the growth and evolution of dismorphic features of an Italian boy wi...
में बचाया:
| मुख्य लेखकों: | , , , , , , , |
|---|---|
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2013
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3608257/ https://ncbi.nlm.nih.gov/pubmed/23517720 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-39-21 |
| टैग : |
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