Article
Persisting embryonal infundibular recess in a case of TITF-1 gene mutation.
Neuroradiology - 1 May 2022
O'Mahony Elizabeth, Ellenbogen Jonathan, Avula Shivaram
Abstract excerpt
The thyroid transcription factor 1 (TITF-1) gene plays an important role in the development of the ventral forebrain, thyroid and lungs. Mutations of this gene are known to cause benign hereditary chorea (BHC) and can cause the full spectrum of abnormalities seen in the brain-thyroid-lung syndrome. Abnormalities of the ventral forebrain on imaging have been variably documented in the literature. Multiple previous...
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