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Last Updated: 06/27/2025
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Found 335 publications
New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.
Journal: American journal of medical genetics. Part A
Published: February 28, 2025
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.
Journal: Diagnostics (Basel, Switzerland)
Published: October 11, 2024
Approach to the Patient with Achondroplasia-New Considerations for Diagnosis, Management, and Treatment.
Journal: The Journal of clinical endocrinology and metabolism
Published: October 03, 2024
Pseudoachondroplasia associated with os odontoideum and retro-odontoid mass: case-based update.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: September 16, 2024
The Effectiveness of Growth Modulation Using Tension Band Plates in Children With Achondroplasia in Comparison to Children With Idiopathic Frontal Axial Deformities of the Knee.
Journal: Journal of pediatric orthopedics
Published: September 05, 2024
Genetic analysis of a fetus with Rhizomelic skeletal dysplasia
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: July 01, 2024
Promising horizons in achondroplasia along with the development of new drugs.
Journal: Endocrine journal
Published: April 03, 2024
The Radiological and Histological Phenotype of Skeletal Abnormalities in Fetal ARCN1-Related Syndrome.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: December 03, 2023
Management of Methicillin-Resistant Staphylococcus aureus-infected femoral nonunion during lengthening in achondroplasia using circular external fixator: a case report.
Journal: BMC musculoskeletal disorders
Published: November 24, 2023
Radiological characteristics of skeletal growth in neonates and infants with achondroplasia.
Journal: American journal of medical genetics. Part A
Published: October 28, 2023
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Journal: Clinical genetics
Published: October 25, 2023
Last Updated: 06/27/2025