Skip to main content

2 Result(s)

within Tanya J. Lehky Remove this filter English Remove this filter Human Genetics Remove this filter

and

  1. No Access

    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...

    Mary C. Whitman, Brenda J. Barry, Caroline D. Robson, Flavia M. Facio… in Human Genetics (2021)

  2. Article

    Open Access

    Noncoding 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...

    Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Wai-Man Chan… in Nature Genetics (2023)

    Download PDF (19522 KB) View Article