Associated Papers
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review.
Elahi Vahed I et al.
Molecular Genetics and Metabolism Reports, 2024
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients.
Farshadyeganeh P et al.
Journal of Human Genetics, 2024
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.
Brugnoni R et al.
Genes, 2023
A Novel Pathogenic HSPG2 Mutation in Schwartz-Jampel Syndrome.
Lin PY et al.
Frontiers in Neurology, 2021
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.
Das Bhowmik A et al.
Neuromuscular Disorders : Nmd, 2016
Select a paper to view details