Título: INHERITED NEURODEVELOPMENTAL BRAIN DISEASES: APPLICATIONS OF HOMOZYGOSITY MAPPING TO IDENTIFY NEW GENETIC CAUSES OF DISEASE
Autores: Gleeson,, Joseph G.; MD
Fecha: 2008-10-18
Publicador: Iranian Journal of Child Neurology
Fuente:
Tipo: info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion

Tema: No aplica
Descripción: AbstractObjectiveThe last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. However, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge ofmolecular causes of these tremendously complex conditions. Common genetic disorders of brain development include septo-optic dysplasia, schizencephaly, holoprosencephaly, lissencephaly and hindbrain malformations. For each of these disorders, a critical step in brain development is disrupted. Specific genetic diagnosis is now possible in some patients with most of these conditions. For the remaining patients, it is possible to apply gene-mapping strategies using newly developed high-density genomic arrays to clone novel genes. This is especially important in countries like Iran where large family size and marriage between relatives makes these strategies tremendously powerful.Keywords: Inherited Neurodevelopmental disease, Microcephaly, Joubert Syndrome
Idioma: Inglés

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