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
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.
Brugnoni R et al.
Genes, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM13_ESM.xlsx › Sheet1
A Novel Pathogenic HSPG2 Mutation in Schwartz-Jampel Syndrome.
Lin PY et al.
Frontiers in Neurology, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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
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
Select a paper to view details