Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

Mohammed E El-Asrag, Panagiotis Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan McKeefry, Kristof Van Schil, James A Poulter, Colin A Johnson, Ian M Carr, Bart P Leroy, Elfride De Baere, Chris F Inglehearn, Andrew R Webster, Carmel Toomes, Manir Ali, Graeme Black (Collaborator), Georgina Hall (Collaborator)Stuart Ingram (Collaborator), Rachel Gillespie (Collaborator), Simon Ramsden (Collaborator), Forbes Manson (Collaborator), Alison Hardcastle (Collaborator), Michel Michaelides (Collaborator), Michael Cheetham (Collaborator), Gavin Arno (Collaborator), Niclas Thomas (Collaborator), Shomi Bhattacharya (Collaborator), Tony Moore (Collaborator), Andrea Nemeth (Collaborator), Susan Downes (Collaborator), Stefano Lise (Collaborator), Emma Lord (Collaborator)

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Biochemistry, Genetics and Molecular Biology