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Cleidocranial Dysplasia: Case Report of Three Siblings
Background: A family case report of cleidocranial dysplasia (CCD) with varied manifestations from father to three siblings is presented. CCD ( MIM # 119600) is a rare autosomal dominant skeletal dysplasia caused by CBAF1 gene ( OMIM 600211) with a wide range of variability. In all the cases generali...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Jaypee Brothers Medical Publishers
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4086567/ https://ncbi.nlm.nih.gov/pubmed/25206109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5005/jp-journals-10005-1027 |
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