You-Hoover-Fong syndrome

Definition:

You-Hoover-Fong syndrome is an autosomal-recessive syndromic form of intellectual disability. It has been reported that compound heterozygous variants in TELO2 were found from six affected individuals from four families with intellectual disability and neurological and other congenital abnormalities, suggesting that these TELO2 variants result in loss of function and cause this disease.

References:

[1]. Jing You, et al. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016 May 5;98(5):909-918. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.