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Article

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 26 Apr 2026

Monahan Gavin, Höppner Jakob, Jüppner Harald, Rick Audrey, McNamara Elyshia, Tee William, Lay-Son Guillermo, Contreras Andy, Martínez Alejandro, García Cristián, Vildoso Javiera, Gardella Thomas J, Kamien Benjamin, Ravenscroft Gianina

Abstract excerpt

The parathyroid hormone receptor 1 (PTH1R) transmits stimuli provided by PTH and PTH-related protein (PTHrP) and thus plays key roles in calcium and phosphate homeostasis as well as skeletal development. Variants in PTH1R have been linked to several conditions, including Jansen metaphyseal chondrodysplasia, Blomstrand chondrodysplasia, primary failure of tooth eruption, and Eiken syndrome. Here, we report a novel...

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Identifiers

PMID: 41031626
DOI: 10.1093/jbmr/zjaf134
PMCID: PMC13135085

Genes

PTH1R
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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