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Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26

BACKGROUND—We have previously described an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia (MED), and distinctive facies in a large, extended Omani family. The MED observed seems to be part of a larger malformation syndrome, since both craniofacial and central nervous sys...

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Detalhes bibliográficos
Main Authors: Bayoumi, R., Saar, K., Lee, Y., Nurnberg, G., Reis, A., Nur-E-Kamal, M., Al-Gazali, L.
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734894/
https://ncbi.nlm.nih.gov/pubmed/11389160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.6.369
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