Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Stephan Unkelbach"'
Autor:
Sabine Lüttgen, Christina Evers, Hatip Aydin, Anne-Karin Kahlert, Kerstin Kutsche, Stephan Unkelbach, Stephanie Spranger, María Juliana Ballesta-Martínez, Angela Ovens-Raeder, Bernhard Zabel, Florian von Deimling, Alena Puchmajerová, Andreas Hahn, Vanesa López-González, Robin Satanovskij, Karim Kouz, Christina Lissewski, Sheela Nampoothiri, Maja Hempel, Angelika Riess, Diana Mitter, Pablo Villavicencio-Lorini, Adrian Lieb, Ulrike Issa, Martin Zenker, Heide Seidel
Publikováno v:
Genetics in Medicine. 18:1226-1234
Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused by germ-line mutations in
Autor:
Katrin Bürk, Yorck Hellenbroich, Wolfram Kreß, Eberhard Schwinger, Karl H P Bentele, Stephan Unkelbach, Christine Zühlke, Matthias Habeck
Publikováno v:
Journal of Neurology. 251:591-594
Aprataxin (APTX) mutations are the cause of ataxia with ocular motor apraxia type 1(AOA1), an autosomal recessive disorder linked to chromosome 9p13.AOA1 seems to be one of the most frequent causes of recessive ataxia in Japan and Portugal. We screen