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Article

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.

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

Uludağ Alkaya Dilek, Akpınar Evren, Bilguvar Kaya, Tüysüz Beyhan

Abstract excerpt

Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the SLC29A3, TNFRSF11A, TCIRG1, and CSF1R genes. To date, four dysosteosclerosis patients with SLC29A3 mutations have been reported. Here, we report biallelic SLC29A3...

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Identifiers

PMID: 33837634
DOI: 10.1002/ajmg.a.62198

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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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