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Article

TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.

Brain & development - 1 Mar 2018

Nakamura Yasuko, Matsumoto Hiroshi, Zaha Kiyotaka, Uematsu Kenji, Nonoyama Shigeaki

Abstract excerpt

BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing...

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Source

Identifiers

PMID: 29289389
DOI: 10.1016/j.braindev.2017.12.006

Genes

TUBB3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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