Mutations in ZBTB20 cause Primrose syndrome  

Oleh:

Cordeddu, Viviana ; Redeker, Bert ; Stellacci, Emilia ; Jongejan, Aldo ; Fragale, Alessandra

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Nature Genetics vol. 46 no. 08 (Aug. 2014), page 815 - 817.
Topik: ZBTB20; Primrose syndrome

Ketersediaan

Perpustakaan FK Nomor Panggil: N12.K Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.

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