Matches in DBpedia 2016-04 for { ?s ?p "Miller–Dieker syndrome (abbreviated MDS), Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations (a physical defect detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract). In this case, it is usually mainly the brain being affected. The congenital malformation can be genetic random and of unknown origin. The malformation is in fact characterized by lissencephaly (smooth brain).MDS is a contiguous gene syndrome, as well, which is a disorder due to the deletion of multiple gene loci that are adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon genes), leading to partial monosomy. There may be unbalanced translocations (i.e. 17q:17p or 12q:17p), or the presence of a ring chromosome 17.This syndrome should not be confused with Miller syndrome, an unrelated rare genetic disorder, or Miller Fisher syndrome, a form of Guillain-Barré syndrome."@en }
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- Miller–Dieker_syndrome abstract "Miller–Dieker syndrome (abbreviated MDS), Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations (a physical defect detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract). In this case, it is usually mainly the brain being affected. The congenital malformation can be genetic random and of unknown origin. The malformation is in fact characterized by lissencephaly (smooth brain).MDS is a contiguous gene syndrome, as well, which is a disorder due to the deletion of multiple gene loci that are adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon genes), leading to partial monosomy. There may be unbalanced translocations (i.e. 17q:17p or 12q:17p), or the presence of a ring chromosome 17.This syndrome should not be confused with Miller syndrome, an unrelated rare genetic disorder, or Miller Fisher syndrome, a form of Guillain-Barré syndrome.".
- Q2200977 abstract "Miller–Dieker syndrome (abbreviated MDS), Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations (a physical defect detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract). In this case, it is usually mainly the brain being affected. The congenital malformation can be genetic random and of unknown origin. The malformation is in fact characterized by lissencephaly (smooth brain).MDS is a contiguous gene syndrome, as well, which is a disorder due to the deletion of multiple gene loci that are adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 epsilon genes), leading to partial monosomy. There may be unbalanced translocations (i.e. 17q:17p or 12q:17p), or the presence of a ring chromosome 17.This syndrome should not be confused with Miller syndrome, an unrelated rare genetic disorder, or Miller Fisher syndrome, a form of Guillain-Barré syndrome.".