Novel de novo CLCN7 mutation in refractory osteopetrosis-related osteomyelitis: A case report and multidisciplinary therapeutic dilemmas.

doi:10.1016/j.jormas.2025.102686

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Article

Novel de novo CLCN7 mutation in refractory osteopetrosis-related osteomyelitis: A case report and multidisciplinary therapeutic dilemmas.

Journal of stomatology, oral and maxillofacial surgery - 1 Sept 2026

Zhang Yi-Wen, Jin Qi-Yao, Xu Ming, Xu Jian-Ping, Zhong Yu-Cai, Li Chong, Lu Ke

Abstract excerpt

BACKGROUND: Osteopetrosis, characterized by impaired osteoclast function and increased bone density, poses significant clinical challenges when complications like mandibular osteomyelitis arise. This report elucidates the clinicoradiographic progression and management of such a case in ADO-II, driven by a novel de novo CLCN7 c.2227C>T (p.R743W) mutation. CASE PRESENTATION: A 57-year-old male presented with...

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Identifiers

PMID: 41421595
DOI: 10.1016/j.jormas.2025.102686

Genes

CLCN7
ADO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.