Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders

Clin Genet. 2020 Oct;98(4):413-415. doi: 10.1111/cge.13808. Epub 2020 Aug 3.

Giacomo Cinnirella^{1

2}, Rachel L Taylor^{3

4}, Claudio Coco⁵, Francesca Piludu⁶, Antonello Vidiri⁶, Lorenzo Sinibaldi⁷, Uwe Kornak^{8

9}, Graeme Black³, Francesco Brancati^{10

11}

¹ Medical Genetics Residency Program, Tor Vergata University of Rome, Rome, Italy.
² University of L'Aquila, L'Aquila, Italy.
³ Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
⁴ Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
⁵ Altamedica Fetal-Maternal Medical Center, Rome, Italy.
⁶ IRCCS Regina Elena National Cancer Institute, Rome, Italy.
⁷ Medical Genetics Unit, Bambino Gesù Pediatric Hospital IRCCS, Rome, Italy.
⁸ Berlin-Brandenburg Centre for Regenerative Therapies (BCRT), Institut fuer Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.
⁹ Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
¹⁰ Medical Genetics Unit, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
¹¹ Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.

Abstract

Craniosynostosis-microphthalmia linked to BCOR haploinsufficiency.