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

Prevalence of congenital heart disease at live birth: an accurate assessment by echocardiographic screening

(2013) Qu-ming Zhao et al.   ACTA PAEDIATRICA

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

(2013) FC Connell et al.   CLINICAL GENETICS

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

(2012) Pia Ostergaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

(2012) Filiz Hazan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders

(2012) Natalia Pastora et al.   OPHTHALMIC GENETICS

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

(2012) Erik G. Puffenberger et al.   PLoS One

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

(2010) H. Dolk   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Lissencephaly and Mild Cerebellar Vermis Hypoplasia in a Case of Microcephaly and Chorioretinal Dysplasia

(2010) Byung Joo Lee et al.   OPHTHALMIC GENETICS

Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature

(2008) Smadar Eventov-Friedman et al.   ACTA PAEDIATRICA

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

(2008) Clelia Prattichizzo et al.   HUMAN MUTATION