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RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, whic...
שמור ב:
| הוצא לאור ב: | JIMD Rep |
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| Main Authors: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer Berlin Heidelberg
2018
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6323008/ https://ncbi.nlm.nih.gov/pubmed/29923091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_112 |
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