Log in to save to my catalogue
Log in to save to my catalogue

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

| Ask | Become a Library member

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3157550005

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

About this item

Full title

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

Author / Creator

Obiezu, Fiona , Almpani, Konstantinia , Kim, Hung Jeffrey , Zalewski, Christopher , Chu, Emily , Jahanmir, Golnar , Roszko, Kelly L , Boyce, Alison , Farhadi, Faraz , Weinstein, Lee S , Gafni, Rachel I , Ferreira, Carlos R , Jüppner, Harald , Collins, Michael T , Lee, Janice S and Jha, Smita

Publisher

England

Journal title

JBMR plus, 2025-02, Vol.9 (2), p.ziae156

Language

English

Formats

Articles

Publication information

Publisher

England

More information

Scope and Contents

Contents

Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by constitutive activation of parathyroid hormone type 1 receptor (PTH1R). We sought to characterize the craniofacial phenotype of patients with the disease. Six patients with genetically confirmed JMC underwent comprehensive craniofacial phenotyping revealing a distinct fac...

Alternative Titles

Full title

Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_3157550005

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3157550005

Other Identifiers

ISSN

2473-4039

E-ISSN

2473-4039

DOI

10.1093/jbmrpl/ziae156

How to access this item

Log in as a Library member

Full text available

About resource

View in old catalogue

Connecting people and collections