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Article

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.

American journal of medical genetics. Part A - 1 Aug 2021

Närhi Anu, Fernandes Andrea, Toiviainen-Salo Sanna, Harris Jessica, McInerney-Leo Aideen, Lazarus Syndia, Avela Kristiina, Duncan Emma L

Abstract excerpt

Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and...

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PMID: 33988298
DOI: 10.1002/ajmg.a.62257

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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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A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.PMID 33988298Read ↗

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