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
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space.
Iwata S et al.
Neuromuscular Disorders : Nmd, 2015
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.
Baschal EE et al.
G3 (bethesda, Md.), 2014
25504735 (PubMed )
Supplement: supp_g3.114.015669_TableS5.xlsx › Supplemental_Table_5
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Stum M et al.
Human Mutation, 2006
Schwartz-Jampel syndrome and perlecan deficiency.
Stum M et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2005
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