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
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
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DOI: 10.1080/13816810.2020.1821382
Abstract: ABSTRACT Introduction Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and… read more here.
Keywords: hoover fong; fong syndrome; siblings diagnosed; syndrome telo2 ... See more keywords
Novel compound heterozygous mutations in TELO2 in an infant with You-Hoover-Fong syndrome: A case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Open Life Sciences"
DOI: 10.1515/biol-2022-0602
Abstract: Abstract We report here the clinical diagnosis and treatment and genetic mutations of an infant with You-Hoover-Fong syndrome (YHFS). The relevant literature review was conducted. A female infant aged 17 months was admitted to Nanhai… read more here.
Keywords: infant hoover; hoover fong; literature review; compound heterozygous ... See more keywords