Al-Gazali-Bakalinova-Syndrom
Das Al-Gazali-Bakalinova-Syndrom ist eine autosomal rezessive Erkrankung die durch Mutationen im KIF7-Gen ausgelöst wird.
Gliederung
Referenzen:
1. |
al-Gazali LI et al. (1998) Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. [^] |
2. |
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. [^] |
3. |
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. [^] |
4. |
Karaer K et al. (2012) Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome? [^] |
5. |
OMIM.ORG article Omim 607131 [^] |
Update: 9. Mai 2019