A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease
Burke, Elizabeth A., Reichard, Kyle E., Wolfe, Lynne A., Brooks, Brian P., DiGiovanna, John J., Hadley, Donald W., Lehky, Tanya J., Gropman, Andrea L., Tifft, Cynthia J., Gahl, William A., Toro, Camilo, Adams, David
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
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Journal Article
A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease
Burke, Elizabeth A, Reichard, Kyle E, Wolfe, Lynne A, Brooks, Brian P, DiGiovanna, John J, Hadley, Donald W, Lehky, Tanya J, Gropman, Andrea L, Tifft, Cynthia J, Gahl, William A, Toro, Camilo, Adams, David
Published in American journal of medical genetics. Part A (01.05.2020)
Published in American journal of medical genetics. Part A (01.05.2020)
Get full text
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