Sacral agenesis with vertebral anomalies

Definition:

Sacral agenesis with vertebral anomalies is a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. It has been reported that mutations in the T (brachyury) gene cause this disease.

References:

[1]. A V Postma, et al. Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. J Med Genet. 2014 Feb;51(2):90-7. [Content Brief]

[2]. Philip F Giampietro, et al. Heterozygous mutations in the T (brachyury) gene. J Med Genet. 2014 May;51(5):354. [Content Brief]

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