Mutations in ZBTB20 cause Primrose syndrome.

doi:10.1038/ng.3035

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Article

Mutations in ZBTB20 cause Primrose syndrome.

Nature genetics - 1 Aug 2014

Cordeddu Viviana, Redeker Bert, Stellacci Emilia, Jongejan Aldo, Fragale Alessandra, Bradley Ted E J, Anselmi Massimiliano, Ciolfi Andrea, Cecchetti Serena, Muto Valentina, Bernardini Laura, Azage Meron, Carvalho Daniel R, Espay Alberto J, Male Alison, Molin Anna-Maja, Posmyk Renata, Battisti Carla, Casertano Alberto, Melis Daniela, van Kampen Antoine, Baas Frank, Mannens Marcel M, Bocchinfuso Gianfranco, Stella Lorenzo, Tartaglia Marco, Hennekam Raoul C

Abstract excerpt

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...

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Identifiers

PMID: 25017102
DOI: 10.1038/ng.3035

Genes

ZBTB20

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