Molecular Mechanisms and Treatment of Monogenic Skeletal Disorders

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Articles

CASE REPORT

Accepted on 22 Apr 2025

Use of burosumab in McCune Albright syndrome: case report and review of literature in mosaic disorders with FGF23 overproduction

Alessandro Barbato
Renato Vaiasuso
Eugenio Trinati
Giulia Del Medico
Nicolò Chiti
Giampiero Igli Baroncelli
Stefano Stagi

doi 10.3389/fendo.2025.1577734

114 views

REVIEW

Accepted on 17 Apr 2025

Research on the Role and Mechanism of the PI3K/Akt/mTOR Signalling Pathway in Osteoporosis

Chuanlong Liu
Jianqiang Zhang
Ziyu Ye
Ji Luo
Bing Peng
Zhexiang Wang

doi 10.3389/fendo.2025.1541714

150 views

CASE REPORT

Published on 07 Oct 2024

Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation

Noha Mukhtar
Balgees Alghamdi
Meshael Alswailem
Afaf Alsagheir
Ali S. Alzahrani

doi 10.3389/fendo.2024.1415639

1,135 views

ORIGINAL RESEARCH

Published on 19 Sep 2024

Lower limb maltorsion and acetabular deformity in children and adolescents with X-linked hypophosphatemia

Alexandra Stauffer
Adalbert Raimann
Stefan Penzkofer
Rudolf Ganger
Christof Radler
Gabriel T. Mindler

doi 10.3389/fendo.2024.1422356

724 views
1 citation

ORIGINAL RESEARCH

Published on 09 Sep 2024

Correction of osteopetrosis in the neonate oc/oc murine model after lentiviral vector gene therapy and non-genotoxic conditioning

Sara Penna
Alessandra Zecchillo
Martina Di Verniere
Elena Fontana
Valeria Iannello
Eleonora Palagano
Stefano Mantero
Andrea Cappelleri
Elena Rizzoli
11 more
Valentina Capo

doi 10.3389/fendo.2024.1450349

1,262 views

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