WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

Autor: Hoffjan, Sabine, Ibisler, Aysegül, Tschentscher, Anne, Dekomien, Gabriele, Bidinost, Carla, Rosa, Alberto L.

Publikováno v: In Molecular and Cellular Probes February 2016 30(1):44-49

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature

Autor: Ibisler, Aysegül, Hehr, Ute, Barth, Andre, Koch, Margarete, Epplen, Jörg T., Hoffjan, Sabine

Acrocallosal syndrome (ACLS) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, facial dysmorphism, postaxial polydactyly of the hands as well as preaxial polydactyly of the feet, and developmental delay. Mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ed86fd74acf811e568c2f54b1778d625
https://europepmc.org/articles/PMC4662294/

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

Autor: Ibisler A; Department of Human Genetics, Ruhr University, Bochum, Germany., Hehr U; Center for and Department of Human Genetics, University of Regensburg, Regensburg, Germany., Barth A; Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany., Koch M; Children's Hospital Datteln, University Witten/Herdecke, Datteln, Germany., Epplen JT; Department of Human Genetics, Ruhr University, Bochum, Germany., Hoffjan S; Department of Human Genetics, Ruhr University, Bochum, Germany.

Publikováno v: Molecular syndromology [Mol Syndromol] 2015 Oct; Vol. 6 (4), pp. 173-80. Date of Electronic Publication: 2015 Oct 07.