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Article

[Malignant infantile osteopetrosis: Case report of a 5-month-old boy].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Apr 2016

Ledemazel J, Plantaz D, Pagnier A, Girard P, Lasfargue M, Hullo E, Dietrich K, Collet C, Moshous D

Abstract excerpt

Malignant infantile osteopetrosis is a rare congenital disease characterized by a dysfunction of osteoclasts followed by an abnormal bone densification. We report the case of a 5-month-old infant in whom this disease was suspected because of the clinical (hepatosplenomegaly, gingival hypertrophy), hematological (pancytopenia and hypocalcemia), and radiological criteria (abnormal bone density, periosteal...

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Source

Identifiers

PMID: 26850155
DOI: 10.1016/j.arcped.2015.12.012

Genes

CLCN7

Provenance

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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