Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

• Autors principals: F. Fontanella (Autor), M. C. van Maarle (Autor), P. Robles de Medina (Autor), R. J. Oostra (Autor), R. R. van Rijn (Autor), E. Pajkrt (Autor), C. M. Bilardo (Autor)
• Format: Llibre
• Publicat: Hindawi Limited, 2016-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

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...