Hypochondrogenesis Latest Advances
Find the Latest Research About Hypochondrogenesis
Last Updated: 02/24/2026
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Found 46 publications
Novel COL2A1 variant in a newborn with hypochondrogenesis.
Journal: Asian journal of surgery
Published: June 12, 2024
Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Journal: Ceskoslovenska patologie
Published: July 19, 2023
Generation of a heterozygous COL2A1 (p.G1113C) hypochondrogenesis mutation iPSC line, MCRIi019-A-7, using CRISPR/Cas9 gene editing.
Journal: Stem cell research
Published: July 13, 2021
Radiologic Features of Type II and Type XI Collagenopathies.
Journal: Radiographics : a review publication of the Radiological Society of North America, Inc
Published: November 13, 2020
Hypochondrogenesis: A pictorial assay combining ultrasound, MRI and low-dose computerized tomography.
Journal: Clinical imaging
Published: September 01, 2020
Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.
Journal: European journal of medical genetics
Published: May 19, 2020
A Heterozygous Mutation in the Triple Helical Region of the Alpha 1 (II) Chain of the COL2A1 Protein Causes Non-Lethal Spondyloepiphyseal Dysplasia Congenita.
Journal: Genetic testing and molecular biomarkers
Published: April 02, 2019
Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives.
Journal: Pediatric radiology
Published: February 23, 2018
Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.
Journal: Human mutation
Published: May 07, 2015
Prenatal sonographic diagnosis of skeletal dysplasias.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: June 24, 2009
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
Journal: Genetic testing
Published: December 17, 2008
Visceral manifestations of hypochondrogenesis.
Journal: Virchows Archiv : an international journal of pathology
Published: January 21, 2008
Last Updated: 02/24/2026