| 1 | EDMM, KIF7
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| A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
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| Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L.
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| Orphanet J Rare Dis 7:27. doi: 10.1186/1750-1172-7-27.
2012
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| 2 | EDMM, SEDMA
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| Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.
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| Eyre S, Roby P, Wolstencroft K, Spreckley K, Aspinwall R, Bayoumi R, Al-Gazali L, Ramesar R, Beighton P, Wallis G.
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| J Med Genet 39(9):634-8. Erratum in: J Med Genet. 2005 Jun;42(6):e34. 2002
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| 3 | EDMM, SEDMA
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| Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.
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| Bayoumi R, Saar K, Lee YA, Nurnberg G, Reis A, Nur-E-Kamal M, Al-Gazali LI.
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| J Med Genet 38(6):369-73. 2001
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| 4 | EDMM
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| Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
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| al-Gazali LI, Bakalinova D.
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| Clin Dysmorphol 7(3):177-84. 1998
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