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Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene
Baller‐Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and P...
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| Asıl Yazarlar: | , , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BMJ Group
2006
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2564634/ https://ncbi.nlm.nih.gov/pubmed/15964893 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031781 |
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