Turnpenny-Fry syndrome

Definition:

Turnpenny-Fry syndrome (TPFS) is an extremely rare disease characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification, and chromatin remodeling via polycomb repressive complex 1 (PRC1).

References:

[1]. Pelin Ercoskun, et al. A new case of Turnpenny-Fry syndrome. Am J Med Genet A. 2022 Feb;188(2):688-691. [Content Brief]

[2]. Peter D Turnpenny, et al. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. Am J Hum Genet. 2018 Nov 1;103(5):786-793. [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.