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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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Autori principali: Bayoumi, R., Saar, K., Lee, Y., Nurnberg, G., Reis, A., Nur-E-Kamal, M., Al-Gazali, L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2001
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Accesso online: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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