Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the HSPG2 gene, which encodes the core protein of perlecan. This study aims to investigate causat...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Elsevier
2024-09-01
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| Rangatū: | Molecular Genetics and Metabolism Reports |
| Ngā marau: | |
| Urunga tuihono: | http://www.sciencedirect.com/science/article/pii/S2214426924000788 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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