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Article
Open AccessNoncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial m...
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Chapter
Congenital Fibrosis of the Extraocular Muscles (CFEOM): A Baby with Poor Tracking and Exotropia
A baby boy presented to the ophthalmology clinic at age 2 months of age with poor visual behavior. His parents reported that he did not seem to fix and follow objects, or to respond to lights being turned on o...
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Reference Work Entry In depth
Genetics of Strabismus
Many forms of both syndromic and nonsyndromic strabismus have an underlying genetic basis. Many genetic syndromes, especially neurological syndromes, can include strabismus as a feature. Isolated, nonsyndromic...
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Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause br...
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Living Reference Work Entry In depth
Genetics of Strabismus
Many forms of both syndromic and nonsyndromic strabismus have an underlying genetic basis. Many genetic syndromes, especially neurological syndromes, can include strabismus as a feature. Isolated, nonsyndromic...
