Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
Eva Klopocki, Stefan Mundlos(Max Planck Institute for Molecular Genetics), Hans‐Hilger Ropers(Max Planck Institute for Molecular Genetics), Reinhard Ullmann(Max Planck Institute for Molecular Genetics), Silke Fleischhauer, Harald Schulze, Fabienne Trotier, Lynn Greenhalgh, André Mégarbané(University Medical Center Groningen), Gabriele Strauß, Denise Horn(Charité - Universitätsmedizin Berlin), Ruth Newbury‐Ecob(University Hospitals Bristol NHS Foundation Trust), Claus‐Eric Ott, E Seemanová(Charles University), Luitgard M. Neumann(Praxis für Humangenetik), R. Habenicht(Katholisches Kinderkrankenhaus Wilhelmstift), Rainer König(Goethe University Frankfurt), Judith G. Hall
Cited by 369
Related Papers
The single-cell transcriptional landscape of mammalian organogenesis
|Nature|2019|4.7k
Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
|Science|1993|1.6k
X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family
|The American Journal of Human Genetics|2004|760