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Last Updated: 10/31/2025
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Found 330 publications
Targeting FGFR3 gain-of-function with Infigratinib, a promising precision therapy for Hypochondroplasia.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: August 07, 2025
Prevalence of low birth weight, short length, and body disproportion at birth in patients with skeletal dysplasias: A retrospective study.
Journal: Archivos argentinos de pediatria
Published: July 15, 2025
Acute arterial ischemic stroke in children: single-center experience.
Journal: Arquivos de neuro-psiquiatria
Published: June 25, 2025
The Head Circumference Height Index (HCH-I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children.
Journal: American journal of medical genetics. Part A
Published: June 14, 2025
Acanthosis Nigricans in Hypochondroplasia Due to FGFR3 Mutation.
Journal: JCEM case reports
Published: March 24, 2025
Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 20, 2025
ERF-Related Craniosynostosis in a Patient With Hypochondroplasia: A Case Report.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: February 19, 2025
Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and Other Genetic Causes of Short Stature.
Journal: Hormone research in paediatrics
Published: February 05, 2025
Mental health conditions, physical functioning, and health-related quality of life in adults with a skeletal dysplasia: a cross-sectional multinational study.
Journal: Orphanet journal of rare diseases
Published: September 25, 2024
Phase 2 Trial of Vosoritide Use in Patients with Hypochondroplasia: A Pharmacokinetic/Pharmacodynamic Analysis.
Journal: Hormone research in paediatrics
Published: August 09, 2024
Last Updated: 10/31/2025