Al-Gazali syndrome

Definition:

Al-Gazali syndrome (ALGAZ) is characterized by multiple skeletal abnormalities with anterior segment anomalies of the eye and early lethality. Pathogenic variants in B3GALT6 have been reported to cause ALGAZ. This gene encodes an essential component of the glycosaminoglycan synthesis pathway.

References:

[1]. A Ben-Mahmoud, et al. A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. Clin Genet. 2018 Jun;93(6):1148-1158. [Content Brief]

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