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- Title
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
- Authors
Bayoumi, R; Saar, K; Lee, Y A; Nürnberg, G; Reis, A; Nur-E-Kamal, M; Al-Gazali, L I
- Abstract
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 gene locus for this malformation syndrome.
- Publication
Journal of medical genetics, 2001, Vol 38, Issue 6, p369
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.38.6.369