Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three affected children. Linkage analysis revealed a region on chromoso...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	American journal of human genetics 2011-08, Vol.89 (2), p.265-276
Hauptverfasser:	Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Amino Acid Sequence Apoptosis Apoptosis - drug effects Autopsy Biological and medical sciences Brain Brain - drug effects Brain - metabolism Brain - pathology Carrier Proteins - chemistry Carrier Proteins - genetics Cell survival Child, Preschool Children chromosome 18 Chromosomes Computational Biology Cortex Diabetes Diabetes mellitus Diabetes Mellitus - pathology Epilepsy Epilepsy - complications Epilepsy - pathology Family Fatal Outcome Female Fetuses Fibroblasts Fibroblasts - drug effects Fibroblasts - metabolism Fibroblasts - pathology Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Linkage - drug effects Genetics of eukaryotes. Biological and molecular evolution Humans Infant Infant, Newborn Linkage analysis Magnetic Resonance Imaging Male Malformations of the nervous system Medical genetics Medical sciences Membrane Proteins - chemistry Membrane Proteins - genetics Microcephaly - complications Microcephaly - pathology Microencephaly Missense mutation Molecular and cellular biology Molecular Sequence Data Mutation Mutation - genetics Neural Stem Cells - drug effects Neural Stem Cells - metabolism Neural Stem Cells - pathology Neurology Pancreas Pedigree Protein folding Proteins siRNA Stress Tumor Necrosis Factor-alpha - pharmacology
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!