We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-specific
β-tubulin isotype III, result in a spectrum of human nervous system disorders that we now …

The mechanisms controlling axon guidance are of fundamental importance in understanding
brain development. Growing corticospinal and somatosensory axons cross the midline in …

PURPOSE: To characterize and grade the spectrum of foveal hypoplasia based on different
stages of arrested development of the fovea. Grading was performed using morphologic …

Research has implicated mutations in the gene for neurexin‐1 (NRXN1) in a variety of
conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there …

Duane syndrome is a congenital eye movement disorder characterized most typically by
absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. …

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human
populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, …

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an
autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We …

This article reviews symptoms and signs of aberrant axon connectivity in humans, and
summarizes major human genetic disorders that result, or have been proposed to result, from …

Isolated strabismus affects 1–5% of the general population 1. Most forms of strabismus are
multifactorial in origin; although there is probably an inherited component, the genetics of …

A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation,
and axon guidance and maintenance have recently been attributed to missense and …