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Article

Rare EN1 Variants and Pediatric Bone Mass.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2016

Mitchell Jonathan A, Chesi Alessandra, McCormack Shana E, Roy Sani M, Cousminer Diana L, Kalkwarf Heidi J, Lappe Joan M, Gilsanz Vicente, Oberfield Sharon E, Shepherd John A, Kelly Andrea, Zemel Babette S, Grant Struan Fa

Abstract excerpt

A recent whole-genome sequencing study in search of variation associated with adult areal bone mineral density (aBMD) identified rare variants near EN1, with markedly large effect sizes, and a common variant near SOX6. To understand the developmental effects of these loci, we sought to determine if they were associated with pediatric dual-energy X-ray absorptiometry-derived aBMD and bone mineral content (BMC) and...

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Source

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Identifiers

PMID: 26970088
DOI: 10.1002/jbmr.2833
PMCID: PMC4970877

Genes

SOX6

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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