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Severe neurodevelopmental disease caused by a homozygous TLK2 variant
A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, o...
שמור ב:
| הוצא לאור ב: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer International Publishing
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7028915/ https://ncbi.nlm.nih.gov/pubmed/31558842 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0519-x |
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