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Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene
Caudal regression syndrome (CRS) is a rare congenital disorder characterized by developmental abnormalities of caudal spinal segments. To date, the etiology of CRS is unclear; sporadic cases are strongly associated with maternal diabetes, while familiar recurrence is infrequent. We describe in detai...
Autores principales: | Fontanella, F., van Maarle, M. C., Robles de Medina, P., Oostra, R. J., van Rijn, R. R., Pajkrt, E., Bilardo, C. M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5220407/ https://www.ncbi.nlm.nih.gov/pubmed/28116192 http://dx.doi.org/10.1155/2016/7625341 |
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