Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17
The co-occurrence of two genetic disorders in a single patient, so called double trouble phenomenon, is a rare clinical scenario that significantly complicates the diagnostic process. This is particularly challenging when both disorders affect the nervous system, leading to overlapping phenotypes. C...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2025-04-01
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| Series: | Нервно-мышечные болезни |
| Subjects: | |
| Online Access: | https://nmb.abvpress.ru/jour/article/view/650 |
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