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Article

Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene.

Boletin medico del Hospital Infantil de Mexico - 1 Jan 2018

Chávez-Güitrón Luis E, Cerón-Torres Tadeo, Sobacchi Cristina, Ochoa-Ruiz Echael, Villegas-Huesca Sugey

Abstract excerpt

Background: Autosomal malignant osteopetrosis is a rare condition arising from dysfunction of bone-resorbing osteoclasts, in which diagnosis requires a high suspicion index. Treatment of choice is allogeneic stem cell transplantation. Best outcomes occur if the procedure is carried out before damage to cranial nerves ensues; nonetheless, patients improve their clinical condition. Case report: An 8-month-old...

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Source

Identifiers

PMID: 30084437
DOI: 10.24875/BMHIM.M18000028

Genes

TCIRG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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