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Article

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.

Bone - 1 Nov 2005

Chu Kang, Koller Daniel L, Snyder Richard, Fishburn Tonya, Lai Dongbing, Waguespack Steven G, Foroud Tatiana, Econs Michael J

Abstract excerpt

INTRODUCTION: Autosomal Dominant Osteopetrosis type II (ADO2) is a heritable osteosclerotic disorder that results from heterozygous mutations in the ClCN7 gene. Analysis of ADO2 in our pedigrees indicates that the penetrance is 66%, with a highly variable phenotype. METHODS: To identify genes that modify disease status, we performed a 10 cM genome-wide scan using 400 microsatellite markers in 112 subjects from...

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Identifiers

PMID: 16120485
DOI: 10.1016/j.bone.2005.06.003

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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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