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
Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants.
Atmaca FG et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Novel HSPG2 Gene Mutation Causing Schwartz-Jampel Syndrome in a Moroccan Family: A Literature Review.
Brugnoni R et al.
Genes, 2023
Somatic Mutation of PRKAR1A in Four Cases of Sporadic Cardiac Myxoma.
Sun Y et al.
Archives of Iranian Medicine, 2023
38310436 (PubMed )
Supplement: aim-26-346-s001.pdf
A Novel Pathogenic HSPG2 Mutation in Schwartz-Jampel Syndrome.
Lin PY et al.
Frontiers in Neurology, 2021
Novel HSPG2 mutations causing Schwartz‑Jampel syndrome type 1 in a Chinese family: A case report.
Yan W et al.
Molecular Medicine Reports, 2018
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