Associated Papers
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
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
A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly.
Aliferis K et al.
Ophthalmic Genetics, 2010
Severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and hypoplastic left heart syndrome: proposal of a new syndrome.
Shimizu R et al.
Congenital Anomalies, 2010
Mutation analysis of B3GALTL in Peters Plus syndrome.
Reis LM et al.
American Journal of Medical Genetics. Part A, 2008
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