Article
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
American journal of medical genetics. Part A - 1 Oct 2016
Di Donato Nataliya, Kuechler Alma, Vergano Samantha, Heinritz Wolfram, Bodurtha Joann, Merchant Sabiha R, Breningstall Galen, Ladda Roger, Sell Susan, Altmüller Janine, Bögershausen Nina, Timms Andrew E, Hackmann Karl, Schrock Evelin, Collins Sarah, Olds Carissa, Rump Andreas, Dobyns William B
Abstract excerpt
Baraitser-Winter cerebrofrontofacial syndrome is caused by heterozygous missense mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1. Recently, we characterized the large cohort of 41 patients presenting with this condition. Our series contained 34 patients with mutations in ACTB and only nine with ACTG1 mutations. Here, we report on seven unrelated patients with six mutations...
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