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- Title
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
- Authors
Powell, Laura; Olinger, Eric; Wedderburn, Sarah; Ramakumaran, Vijayalakshmi Salem; Kini, Usha; Clayton-Smith, Jill; Ramsden, Simon C.; Rice, Sarah J.; Barroso-Gil, Miguel; Wilson, Ian; Cowley, Lorraine; Johnson, Sally; Harris, Elizabeth; Montgomery, Tara; Bertoli, Marta; Boltshauser, Eugen; Sayer, John A.
- Subjects
JOUBERT syndrome; CEREBELLUM diseases; DYSPLASIA; CYSTS (Pathology); PEDIATRIC neurology
- Publication
Brain Communications, 2021, Vol 3, Issue 3, p1
- ISSN
2632-1297
- Publication type
Article
- DOI
10.1093/braincomms/fcab163