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Article

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

European journal of human genetics : EJHG - 1 Jul 2010

Désir Julie, Sznajer Yves, Depasse Fanny, Roulez Françoise, Schrooyen Marc, Meire Françoise, Abramowicz Marc

Abstract excerpt

The latent TGFbeta-binding proteins (LTBPs) and fibrillins are a superfamily of large, multidomain proteins with structural and TGFbeta-signalling roles in the extracellular matrix. Their importance is underscored by fibrillin-1 mutations responsible for Marfan syndrome, but their respective roles are still incompletely understood. We report here on two families where children from healthy, consanguineous...

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Source

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Identifiers

PMID: 20179738
DOI: 10.1038/ejhg.2010.11
PMCID: PMC2987369

Genes

LTBP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.PMID 20179738Read ↗

LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.Semantic proximity Read ↗

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.Semantic proximity Read ↗

LTBP2 variants in childhood glaucoma: Phenotypic expansion and clinical experience.Semantic proximity Read ↗

Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis.Semantic proximity Read ↗

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

Null mutations in LTBP2 cause primary congenital glaucoma.Semantic proximity Read ↗

Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.Semantic proximity Read ↗

Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.Semantic proximity Read ↗

Compound Heterozygous LTBP2 Mutations Associated With Juvenile-Onset Open-Angle Glaucoma and Marfan-Like Phenotype.Semantic proximity Read ↗

Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma.Semantic proximity Read ↗

Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth - Association with a homozygous 2bp-insertion in LTBP2?Semantic proximity Read ↗

Zonule-Associated Gene Variants in Isolated Ectopia Lentis and Glaucoma.Semantic proximity Read ↗

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