טוען...
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss
BACKGROUND: Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly‐Xaa‐Yaa amino acid sequence repeat region of...
שמור ב:
| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7507023/ https://ncbi.nlm.nih.gov/pubmed/32578940 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1354 |
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