Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You‐Hoover‐Fong syndrome
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DOI: 10.1002/mgg3.287
Abstract: Very recently, compound heterozygous loss‐of‐function mutations in TELO2 were shown to underlie the newly‐described You‐Hoover‐Fong syndrome. TELO2 forms part of the co‐chaperone triple T complex (TTT complex), which plays an important role in the maturation… read more here.
Keywords: hoover fong; fong syndrome; patient severe; compound heterozygous ... See more keywords