1. Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. Issue 7 (8th April 2014) Authors: Titheradge, Hannah; Togneri, Fiona; McMullan, Dominic; Brueton, Louise; Lim, Derek; Williams, Denise Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1695 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray. Issue 3 (6th February 2020) Authors: Drozniewska, Malgorzata; Kilby, Mark D.; Vogt, Julie; Togneri, Fiona; Quinlan‐Jones, Elizabeth; Reali, Lisa; Allen, Stephanie; McMullan, Dominic Journal: Clinical case reports Issue: Volume 8:Issue 3(2020) Page Start: 508 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗