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Article

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.

American journal of medical genetics. Part A - 1 Aug 2024

Li Jennifer Yee-Ming, Ho Fanny Tsz-Wai, Lee Mianne, Chan Joyce, Chung Brian Hon-Yin, Tung Joanna Yuet-Ling, Ma Alison Lap-Tak

Abstract excerpt

Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO. Here, we...

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PMID: 38551204
DOI: 10.1002/ajmg.a.63616

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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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A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.PMID 38551204Read ↗

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