Das Al-Gazali-Bakalinova-Syndrom ist eine autosomal rezessive Erkrankung die durch Mutationen im KIF7-Gen ausgelöst wird.
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al-Gazali LI et al. (1998) Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. |
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Ali BR et al. (2012) A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. |
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Bayoumi R et al. (2001) Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26. |
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Karaer K et al. (2012) Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? |
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OMIM.ORG article Omim 607131 |