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 37 publications
Phenotypic heterogeneity in DYNC2H1-related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.
Journal: Journal of medical genetics
Published: September 07, 2024
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Journal: Frontiers in endocrinology
Published: March 28, 2023
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature.
Journal: American journal of medical genetics. Part A
Published: March 10, 2023
Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.
Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
Published: November 28, 2022
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Journal: Clinical genetics
Published: February 07, 2022
Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
Journal: European journal of medical genetics
Published: May 06, 2021
The vascular origins of antero-medial tibial bowing in congenital fibular deficiency.
Journal: Anatomical record (Hoboken, N.J. : 2007)
Published: August 07, 2020
Radiological and histopathological features of short rib‑polydactyly syndrome type III and identification of two novel DYNC2H1 variants.
Journal: Molecular medicine reports
Published: July 31, 2020
Posteromedial tibial deformity: Radiological evolution and treatment of the discrepancy.
Journal: Revista espanola de cirugia ortopedica y traumatologia (English ed.)
Published: May 24, 2020
Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.
Journal: International journal of obstetric anesthesia
Published: September 27, 2018
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia.
Journal: Head and neck pathology
Published: September 19, 2017
Imaging features of lower limb malformations above the foot.
Journal: Diagnostic and interventional imaging
Published: January 20, 2014
Last Updated: 10/31/2025