Clinical utility gene card for: 16p13.11 microdeletion syndrome

Eur J Hum Genet. 2014 May;22(5). doi: 10.1038/ejhg.2013.230. Epub 2013 Oct 9.

Authors

Maria Tropeano¹, Joris Andrieux², 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

Amidohydrolases / genetics
Chromosome Deletion*
Chromosomes, Human, Pair 16*
DNA Mutational Analysis
Diagnosis, Differential
Genetic Counseling
Humans
Microtubule-Associated Proteins / genetics
Mutation
Prenatal Diagnosis
Reproducibility of Results
Risk Assessment
Sensitivity and Specificity
Syndrome

Substances

Microtubule-Associated Proteins
Nde1 protein, human
Amidohydrolases
N-terminal asparagine amidohydrolase