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Article

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.

Bone - 1 Feb 2014

Pangrazio Alessandra, Puddu Alessandro, Oppo Manuela, Valentini Maria, Zammataro Luca, Vellodi Ashok, Gener Blanca, Llano-Rivas Isabel, Raza Jamal, Atta Irum, Vezzoni Paolo, Superti-Furga Andrea, Villa Anna, Sobacchi Cristina

Abstract excerpt

Autosomal Recessive Osteopetrosis is a genetic disorder characterized by increased bone density due to lack of resorption by the osteoclasts. Genetic studies have widely unraveled the molecular basis of the most severe forms, while cases of intermediate severity are more difficult to characterize, probably because of a large heterogeneity. Here, we describe the use of exome sequencing in the molecular diagnosis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24269275
DOI: 10.1016/j.bone.2013.11.014
PMCID: PMC3885796

Genes

CTSK

Provenance

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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