Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families
Background: Congenital contractural arachnodactyly (CCA) is a rare autosomal dominant disorder caused by pathogenic variants of Fibrillin-2 (FBN2) gene. This study aimed to investigate the variants in three Chinese families with CCA. Methods: Next-generation sequencing analysis and Sanger sequencing...
I tiakina i:
| Ngā kaituhi matua: | , , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Elsevier
2024-12-01
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| Rangatū: | Molecular Genetics and Metabolism Reports |
| Ngā marau: | |
| Urunga tuihono: | http://www.sciencedirect.com/science/article/pii/S2214426924000934 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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