Article
Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
The Journal of clinical endocrinology and metabolism - 1 Mar 2015
Balasubramanian Ravikumar, Chew Sheena, MacKinnon Sarah E, Kang Peter B, Andrews Caroline, Chan Wai-Man, Engle Elizabeth C
Abstract excerpt
CONTEXT: A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). All TUBB3 E410K subjects reported to date are...
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