Concepedia

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela Jones, Pia Østergaard, Anthony T. Moore, Fiona Connell, Denise Williams, Oliver Quarrell, Angela F. Brady, Isabel Spier, Oana Moldovan, Dagmar Wieczorek,

European Journal of Human Genetics · 2013 · 93 citations · 19 references

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Concepts

References

19

A new syndrome

Jm Costello · Medical Entomology and Zoology · 1971 · 499 citations

, , +16

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez et al. · PLoS ONE · 2012 · 307 citations · Full text

, , +17

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Østergaard, Michael A. Simpson, Antonella Mendola et al. · The American Journal of Human Genetics · 2012 · 192 citations · Full text

, , +10

THE PREDICTIVE VALUE OF MICROCEPHALY DURING THE FIRST YEAR OF LIFE FOR MENTAL RETARDATION AT SEVEN YEARS

Helen Dolk · Developmental Medicine & Child Neurology · 1991 · 149 citations

, , +13

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Clelia Prattichizzo, Marina Macca, Valeria Novelli et al. · Human Mutation · 2008 · 96 citations

, , +17