Baraitser-winter syndrome in a boy with heterozygous missense mutation in the ACTB gene

Temel, Şehime GülsünEkmekçi, G.Yenmiş, G.Kiper, P. O. ŞimşekAlanay, Y.2024-07-242024-07-242018-10-011018-4813https://hdl.handle.net/11452/43419Bu çalışma, 27-30, Mayıs 2017 tarihlerinde Copenhagen[Danimarka]’da düzenlenen 50. European-Society-of-Human-Genetics (ESHG) Conference Kongresi‘nde bildiri olarak sunulmuştur.eninfo:eu-repo/semantics/closedAccessScience & technologyLife sciences & biomedicineBiochemistry & molecular biologyGenetics & heredityBaraitser-winter syndrome in a boy with heterozygous missense mutation in the ACTB geneMeeting Abstract000489312608068956956261476-5438