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Article

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.

Gene - 10 Dec 2013

Ben Mahmoud Afif, Siala Olfa, Mansour Riadh Ben, Driss Fatma, Baklouti-Gargouri Siwar, Mkaouar-Rebai Emna, Belguith Neila, Fakhfakh Faiza

Abstract excerpt

Peters plus syndrome is a rare recessive autosomal disorder comprising ocular anterior segment dysgenesis, short stature, hand abnormalities and distinctive facial features. It was related only to mutations in the B3GALTL gene in the 13q12.3 region. In this study, we undertook the first functional analysis of a novel c.597-2 A>G splicing mutation within the B3GALTL gene using an ex-vivo approach. The results...

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Identifiers

PMID: 23954224
DOI: 10.1016/j.gene.2013.07.058

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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