Associated Papers
AMD Genetics in India: The Missing Links.
Anand A et al.
Frontiers in Aging Neuroscience, 2016
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.
Weh E et al.
Clinical Genetics, 2014
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.
Ben Mahmoud A et al.
Gene, 2013
An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene.
Siala O et al.
Iranian Journal of Pediatrics, 2013
Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.
Siala O et al.
Gene, 2012
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