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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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Autors principals: Mathur, Rinku, Bhat, Manohar, V, Satish, Parvez, Mohd
Format: Artigo
Idioma:Inglês
Publicat: Jaypee Brothers Medical Publishers 2009
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Accés en línia: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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