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Paper Details

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
10
2021
Arg262His, CFEOM3, E410K, Kallmann syndrome, NM_006086., NM_006086.4, R262H, TUBB3, TUBB3 Arg262His, TUBB3 E410K syndrome, TUBB3 R262H, TUBB3 R262H syndrome, absent olfactory bulbs and sulci, alpha- and beta-tubulin, anosmia, auditory dysfunction, basal ganglia malformations, brain malformations, c.785G>A, cerebellar malformations, congenital and acquired joint contractures, congenital fibrosis of the extraocular muscles type 3, congenital joint contractures, cyclic vomiting, early, exotropia, facial dysmorphisms, facial palsy, facial weakness, gait disorders, hypogonadotropic hypogonadism, hypoplasia of the corpus callosum and anterior commissure, impaired gait, intellectual disabilities, joint contractures, malformations of cortical development, neuron-specific beta-tubulin isotype, ophthalmoplegia, p.Arg262His, peripheral neuropathy, proximal joint contractures, ptosis, tachycardia at rest, tubulin isoforms, vocal cord paralysis
Author NameAffiliation
Flavia M FacioCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH)
Flavia M FacioCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH)
Christopher K ZalewskiNational Institute on Deafness and Other Communication Disorders
Kelly A KingNational Institute on Deafness and Other Communication Disorders
Carmen C BrewerNational Institute on Deafness and Other Communication Disorders
Janice S LeeNational Institute of Dental and Craniofacial Research
Camilo ToroNational Human Genome Research Institute
Bryn D WebbUniversity of Wisconsin - Madison
Bryn D WebbIcahn School of Medicine at Mount Sinai
Bryn D WebbUniversity of Wisconsin - Madison
Bryn D WebbIcahn School of Medicine at Mount Sinai
Emma ThamClinical Genetics, Karolinska University Hospital
Emma ThamKarolinska Institutet
Francis S CollinsCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH)
Francis S Collins
Francis S CollinsCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH)
Francis S Collins
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