Article
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
Journal of medical genetics - 1 Jun 2001
Bayoumi R, Saar K, Lee Y A, Nürnberg G, Reis A, Nur-E-Kamal M, Al-Gazali L I
Abstract excerpt
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 system changes were present in the family. We performed a whole genome scan in this family in order to identify the...
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