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Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
- 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
- Subjects :
- Male
medicine.medical_specialty
Heterozygote
Fatal outcome
genetic structures
Adolescent
alpha7 Nicotinic Acetylcholine Receptor
Encephalopathy
Alpha7 Nicotinic Acetylcholine Receptor
Receptors, Nicotinic
Fatal Outcome
Seizures
Genetics
Medicine
Humans
Family
Child
Base Pairing
Genetics (clinical)
Chromosomes, Human, Pair 15
business.industry
Homozygote
Infant
medicine.disease
eye diseases
Human genetics
Hypotonia
Pediatric Radiology
Family medicine
Technical university
Medical genetics
Muscle Hypotonia
sense organs
medicine.symptom
Chromosome Deletion
business
Subjects
Details
- ISSN :
- 15524833
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....db5a7fb1f5fde97581bb9a99f6a74371