Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Elisabeth Latta"'
Autor:
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-15 (2018)
Abstract Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, charact
Externí odkaz:
https://doaj.org/article/940ccc65bbc64518b8c463bd8eef7ec1
Autor:
Hildegard Kehrer-Sawatzki, Helga Rehder, Christa Fonatsch, Georg F. Hoffmann, Berthold Streubel, Elisabeth Latta
Publikováno v:
American Journal of Medical Genetics. 87:12-16
We report on a third case with neurofibromatosis type 1 (NF1) due to mosaicism for a gross deletion in 17q11.2 covering the entire NF1 gene. The deletion was suspected in Giemsa banded chromosomes and was confirmed by fluorescence in situ hybridizati