Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

Planar Cell Polarity Protein Celsr1 Regulates Endothelial Adherens Junctions and Directed Cell Rearrangements during Valve Morphogenesis

(2013) Florence Tatin et al.   DEVELOPMENTAL CELL

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

(2013) Silvia Cappello et al.   NATURE GENETICS

An evolutionary shift in the regulation of the Hippo pathway between mice and flies

(2013) W Bossuyt et al.   ONCOGENE

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance

(2012) Sahar Mansour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

(2012) Mary J Emond et al.   NATURE GENETICS

CCBE1 Is Essential for Mammalian Lymphatic Vascular Development and Enhances the Lymphangiogenic Effect of Vascular Endothelial Growth Factor-C In Vivo

(2011) Frank L. Bos et al.   CIRCULATION RESEARCH

Characterization of a Dchs1 mutant mouse reveals requirements for Dchs1-Fat4 signaling during mammalian development

(2011) Y. Mao et al.   DEVELOPMENT

Expression of Vascular Endothelial Growth Factor Receptor-3 mRNA in the Developing Rat Cerebellum

(2010) Yun Hou et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Angiopoietin-2 Regulates Cortical Neurogenesis in the Developing Telencephalon

(2010) Léna Marteau et al.   CEREBRAL CORTEX

Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome?

(2010) L. Maldergem et al.   CLINICAL GENETICS

Prox1 Regulates the Notch1-Mediated Inhibition of Neurogenesis

(2010) Valeria Kaltezioti et al.   PLOS BIOLOGY

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

(2009) Marielle Alders et al.   NATURE GENETICS

ccbe1 is required for embryonic lymphangiogenesis and venous sprouting

(2009) Benjamin M Hogan et al.   NATURE GENETICS

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease

(2008) Sakura Saburi et al.   NATURE GENETICS