Ehlers Danlos syndromesGene: COX7B
Linear skin defects with multiple congenital anomalies 2;300887. Not significant overlap with EDS. Review from EDS National Diagnostic Service North West London Hospital NHS Trust: Dr Angela Brady FRCP PhD, Consultant Clinical Geneticist; Dr Neeti Ghali MBChB MD, Consultant Clinical Geneticist; Dr Fleur S van Dijk MD PhD, Consultant.
Created: 7 Jul 2017, 6:29 p.m.
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
COX7B was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen
COX7B was created by ellenmcdonagh