Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 236 publications
Clinical phenotype and genotypic analysis of a four-generation Chinese pedigree affected with Stickler syndrome and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025
Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.
Journal: Molecular syndromology
Published: March 05, 2025
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.
Journal: Clinical genetics
Published: February 16, 2025
Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.
Journal: The journal of international advanced otology
Published: December 11, 2024
Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review.
Journal: World journal of methodology
Published: October 17, 2024
Novel LOXL3-associated stickler syndrome-like phenotype: a case report.
Journal: Ophthalmic genetics
Published: July 03, 2024
Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.
Journal: Bone
Published: May 21, 2024
ENPP1 enzyme replacement therapy improves ectopic calcification but does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.
Journal: JBMR plus
Published: May 10, 2024
Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Journal: Frontiers in endocrinology
Published: November 27, 2023
Last Updated: 10/31/2025