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Structural chromosomal rearrangements can lead to a wide variety of serious clinical manifestations, including mental retardation, schizophrenia and autism. Over the last years, chromosomal rearrangements below the detection level of conventional karyotyping have proven to contribute significantly t ...
Development proceeds through a set of epigenetic states, which are mitotically stable, but potentially reversible. Chromatin marks are one form epigenetic inheritance. Inappropriate chromatin marks lead to inappropriate expression or repression of genes, change developmental trajectories and result ...
Mutations of the Aristaless related homeobox, ARX, gene are amongst the most frequent causes of familial X-linked intellectual disability, rivalling fragile X syndrome. So far there have been close to 100 families and isolated cases with ARX mutations reported in at least nine clinical phenotypes. A ...
Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that represents the leading genetic cause of death in childhood. Homozygous mutation of the survival motor neuron gene 1 (SMN1) causes SMA, while the number of nearly identical SMN2 copies determines disease seve ...
Diagnostics of movement disorders is a major challenge in medical genetics. It usually requires the clinical characterization of the patients by neurologists who are trained in rare diseases. However, the overlapping clinical presentation of different diseases, their wide variation of symptoms in pa ...
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