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Cited article:

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

Alice Masurel‐Paulet, Isabelle Drumare, Muriel Holder, Jean‐Marie Cuisset, Louis Vallée, Sabine Defoort, Béatrice Bourgois, Philippe Pernes, Jean‐Christophe Cuvellier, Frédéric Huet, Salima El Chehadeh, Julien Thevenon, Patrick Callier, Christel Thauvin, Laurence Faivre and Joris Andrieux
American Journal of Medical Genetics Part A 164 (6) 1537 (2014)
https://doi.org/10.1002/ajmg.a.36471