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Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

Authors :
Gudrun A. Rappold
Gabriele Hahn
Karl Hackmann
Ulrich Haug
Jens Schallner
Ute Grasshoff
Sigrid Tinschert
Ute Moog
Teresa Neuhann
Volker Endris
Evelin Schröck
Michael Bonin
Source :
American journal of medical genetics. Part A. (11)
Publication Year :
2010

Abstract

Homozygous Loss of CHRNA7 on Chromosome 15q13.3 Causes Severe Encephalopathy With Seizures and Hypotonia Volker Endris, Karl Hackmann, Teresa M. Neuhann, Ute Grasshoff, Michael Bonin, Ulrich Haug, Gabriele Hahn, Jens C. Schallner, Evelin Schr€ock, Sigrid Tinschert, Gudrun Rappold, and Ute Moog* Department of Molecular Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany Institute of Clinical Genetics, Technical University Dresden, Dresden, Germany Institute of Human Genetics, Medical Genetics T€ubingen, T€ubingen, Germany Center for Child Neurology and Social Pediatrics Maulbronn, Maulbronn, Germany Children’s Hospital, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, Germany Institute of Diagnostic Radiology, Department of Pediatric Radiology, Medical Faculty Carl Gustav Carus, University of Technology, Dresden, Germany Department of Human Genetics, Institute of Human Genetics, Heidelberg University, Heidelberg, Germany

Details

ISSN :
15524833
Issue :
11
Database :
OpenAIRE
Journal :
American journal of medical genetics. Part A
Accession number :
edsair.doi.dedup.....db5a7fb1f5fde97581bb9a99f6a74371