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Article

Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).

Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Feb 2011

Toral-López Jaime, Gonzalez-Huerta Luz Maria, Sosa Blanca, Orozco Sócrates, González Hugo Peláez, Cuevas-Covarrubias Sergio A

Abstract excerpt

BACKGROUND: Pycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localiz...

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Source

Identifiers

PMID: 21099701
DOI: 10.231/JIM.0b013e318202a9db

Genes

CTSK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21099701-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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