Genetic and structural changes leading to symptomatic Currarino syndrome – case presentation with re-analyzation of 102 cases of MNX1 genetic change
Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and...
שמור ב:
| Principais autores: | , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Elsevier
2026-03-01
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| סדרה: | Human Pathology Reports |
| נושאים: | |
| גישה מקוונת: | http://www.sciencedirect.com/science/article/pii/S2772736X25000416 |
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