Clinical utility gene card for: 15q13.3 microdeletion syndrome

Eur J Hum Genet. 2014 Nov;22(11):1338. doi: 10.1038/ejhg.2014.88. Epub 2014 May 14.

Authors

Maria Tropeano¹, Joris Andrieux², Evangelos Vassos¹, David A Collier³

Affiliations

¹ MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK.
² Institut de Génétique Médicale, CHRU de Lille, Lille, France.
³ 1] MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK [2] Discovery Neuroscience Research, Eli Lilly and Company Ltd, Lilly Research Laboratories, Erl Wood Manor, Surrey, UK.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Cycle Proteins / genetics
Chromosome Deletion
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics*
Chromosomes, Human, Pair 15 / genetics
Endodeoxyribonucleases
Exodeoxyribonucleases / genetics
Genetic Testing
Humans
Intellectual Disability / diagnosis*
Intellectual Disability / genetics*
Kruppel-Like Transcription Factors / genetics
Multifunctional Enzymes
Polymorphism, Single Nucleotide
Repressor Proteins / genetics
Seizures / diagnosis*
Seizures / genetics*
alpha7 Nicotinic Acetylcholine Receptor / genetics

Substances

Cell Cycle Proteins
Chrna7 protein, human
KLF13 protein, human
Kruppel-Like Transcription Factors
Multifunctional Enzymes
Repressor Proteins
alpha7 Nicotinic Acetylcholine Receptor
Endodeoxyribonucleases
Exodeoxyribonucleases
FAN1 protein, human

Supplementary concepts

Chromosome 15q13.3 Microdeletion Syndrome