Congenital microcephaly and chorioretinopathy due to de novo heterozygousKIF11mutations: Five novel mutations and review of the literature

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

Ophthalmologic findings in Aicardi syndrome

(2012) Gary Fruhman et al.   JOURNAL OF AAPOS

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

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

Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance

(2011) Y. Adachi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

(2011) Saqib Mahmood et al.   Orphanet Journal of Rare Diseases

On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association

(2010) Jean-Pierre Fryns et al.   CLINICAL GENETICS

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly

(2010) Lina Basel-Vanagaite et al.   PEDIATRIC NEUROLOGY

Primary microcephaly: do all roads lead to Rome?

(2009) Gemma K. Thornton et al.   TRENDS IN GENETICS