Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Journal: European journal of human genetics : EJHG
Published: November 27, 2019
An Infected Urachal Cyst in a 4-Year-Old Girl Presenting with Recurrent Abdominal Pain.
Journal: The Journal of emergency medicine
Published: October 13, 2018
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Journal: American journal of human genetics
Published: August 10, 2018
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
Journal: American journal of medical genetics. Part A
Published: September 01, 2016
Novel EED mutation in patient with Weaver syndrome.
Journal: American journal of medical genetics. Part A
Published: May 09, 2016
Lysinuric Protein Intolerance Presenting with Multiple Fractures.
Journal: Molecular genetics and metabolism reports
Published: November 25, 2014
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
Journal: American journal of medical genetics. Part A
Published: August 01, 2014
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: April 03, 2013
Early childhood presentation of Czech dysplasia.
Journal: Clinical dysmorphology
Published: March 02, 2013
Imaging features of intravesical urachal cysts in children.
Journal: Pediatric radiology
Published: October 06, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026