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Prenatal diagnosis of Joubert syndrome: A case report and literature review
INTRODUCTION: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with...
Shranjeno v:
| izdano v: | Medicine (Baltimore) |
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| Main Authors: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wolters Kluwer Health
2017
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5758116/ https://ncbi.nlm.nih.gov/pubmed/29390414 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000008626 |
| Oznake: |
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