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...

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Detalles Bibliográficos
Autores principales: Fontanella, F., van Maarle, M. C., Robles de Medina, P., Oostra, R. J., van Rijn, R. R., Pajkrt, E., Bilardo, C. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
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

Internet

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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