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Article

Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Aug 2013

Zhao W, Petit E, Gafni R I, Collins M T, Robey P G, Seton M, Miller K K, Mannstadt M

Abstract excerpt

UNLABELLED: The Hajdu-Cheney syndrome is a very rare disease that affects several organ system, leading to severe osteoporosis and other abnormalities. We describe clinical and genetic findings of nine patients with this disease. INTRODUCTION: The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder characterized by severe osteoporosis, acroosteolysis of the distal phalanges, renal cysts, and other...

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Identifiers

PMID: 23389697
DOI: 10.1007/s00198-013-2298-5
PMCID: PMC4037401

Genes

NOTCH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Hajdu-Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience.Semantic proximity Read ↗

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