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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Detaylı Bibliyografya
Asıl Yazarlar: Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2006
Konular:
Short Report
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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