Hypochondroplasia Latest Advances
Find the Latest Research About Hypochondroplasia
Last Updated: 06/30/2026
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Found 342 publications
The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study.
Journal: Turkish archives of pediatrics
Published: May 05, 2026
A novel de novo frameshift variant in ZMYM2 expands the neuropsychiatric spectrum of NECRC syndrome: a case report.
Journal: Molecular biology reports
Published: March 16, 2026
Growth plate cartilage-targeting nanoparticles for pharmacological treatment of hypochondroplasia.
Journal: Bioactive materials
Published: March 12, 2026
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Journal: Advances in therapy
Published: December 24, 2025
ACAN-related disorder, antenatal presentation and phenotypic variability: a case series.
Journal: Journal of medical genetics
Published: November 10, 2025
Clinical features and variant spectrum of FGFR3-related disorders
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: October 22, 2025
Response to Letter to the Editor for "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: October 08, 2025
The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.
Journal: American journal of human biology : the official journal of the Human Biology Council
Published: September 22, 2025
Effect of Vosoritide therapy on IGF-I and Endogenous C-type Natriuretic Peptide in Hypochondroplasia.
Journal: The Journal of clinical endocrinology and metabolism
Published: September 07, 2025
Infigratinib is a weak inhibitor of the FGFR3-N540K mutant associated with hypochondroplasia.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: August 22, 2025
Targeting fibroblast growth factor receptor 3 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
Last Updated: 06/30/2026