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Article

Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome.

The Journal of clinical endocrinology and metabolism - 1 Nov 2017

Sakka Sophia, Gafni Rachel I, Davies Justin H, Clarke Bart, Tebben Peter, Samuels Mark, Saraff Vrinda, Klaushofer Klaus, Fratzl-Zelman Nadja, Roschger Paul, Rauch Frank, Högler Wolfgang

Abstract excerpt

Context: Hajdu-Cheney syndrome (HJCYS) is a rare, multisystem bone disease caused by heterozygous mutations in the NOTCH2 gene. Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate (BP) therapy. Objective: To investigate clinical and bone histomorphometric characteristics, bone matrix mineralization, and the response of...

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Source

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Identifiers

PMID: 28938420
DOI: 10.1210/jc.2017-01102
PMCID: PMC5673271

Genes

NOTCH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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