Associated Papers
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.
Ben-Mahmoud A et al.
Clinical Genetics, 2018
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
Sellars EA et al.
Seminars in Pediatric Neurology, 2014
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