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See Latest ArticlesMutation in the TBCE gene is associated with Hypoparathyroidism-Retardation-Dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum
Journal of Clinical Endocrinology and Metabolism, 06/08/09
Padidela R et al. - GH insufficiency, hypocortisolemia and abnormal cranial MRI appear to be associated with HRD and may contribute in part to the short stature. This data support the need for longer term monitoring for evolving pituitary hormone deficiencies and raise the possibility that Tubulin co-factor E may play a role in development of the anterior pituitary, corpus callosum and white matter in addition to the parathyroid glands.
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