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? [^] |
Update: 23. März 2018
