Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis

Phenotypic expansion illuminates multilocus pathogenic variation

(2018) Ender Karaca et al.   GENETICS IN MEDICINE

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

(2015) Mala Isrie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The microtubule end-binding protein EB2 is a central regulator of microtubule reorganisation in apico-basal epithelial differentiation

(2013) D. A. Goldspink et al.   JOURNAL OF CELL SCIENCE

Infantile hypertrophic pyloric stenosis—genetics and syndromes

(2012) Babette Peeters et al.   Nature Reviews Gastroenterology & Hepatology

Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

(2011) Gyu-Un Bae et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: “Circumferential skin creases Kunze type”

(2011) Leen Wouters et al.   European Journal of Medical Genetics

Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo

(2009) Wei Zhang et al.   FEBS Journal

Paracrine Hedgehog Signaling in Stomach and Intestine: New Roles for Hedgehog in Gastrointestinal Patterning

(2009) Åsa Kolterud et al.   GASTROENTEROLOGY