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Paper Details

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.
Am J Med Genet A
5
2020
Hirschsprung disease, SOX10, WS, Waardenburg syndrome, abnormal pigmentation of the hair, skin, and eyes, genetic disorders, hearing loss, neural crest-derived lineages, peripheral demyelinating neuropathy, primary peripheral demyelinating neuropathy, sensorineural hearing loss, visual impairment
Author NameAffiliation
Lynne A WolfeNational Human Genome Research Institute
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute
Lynne A WolfeNational Human Genome Research Institute
Lynne A WolfeOffice of the Clinical Director, National Human Genome Research Institute
Brian P BrooksNational Eye Institute
Cynthia J TifftNational Human Genome Research Institute
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute
Cynthia J TifftNational Human Genome Research Institute
Cynthia J TifftOffice of the Clinical Director, National Human Genome Research Institute
William A GahlNational Human Genome Research Institute
William A GahlNational Human Genome Research Institute
William A GahlOffice of the Clinical Director, National Human Genome Research Institute
William A GahlNational Human Genome Research Institute
William A GahlOffice of the Clinical Director, National Human Genome Research Institute
William A GahlNational Human Genome Research Institute
Camilo ToroNational Human Genome Research Institute
Camilo ToroOffice of the Clinical Director, National Human Genome Research Institute
David R AdamsNational Human Genome Research Institute
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute
David R AdamsNational Human Genome Research Institute
David R AdamsOffice of the Clinical Director, National Human Genome Research Institute
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