A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

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

(2014) Mariëlle Alders et al.   HUMAN GENETICS

Mutations in PIK3R1 Cause SHORT Syndrome

(2013) David A. Dyment et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

(2013) Sohela Shah et al.   PLoS One

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis

(2012) FC Connell et al.   CLINICAL 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

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

(2009) Fiona Connell et al.   HUMAN GENETICS

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