Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome
Laura Powell(University of Maryland, Baltimore), John A. Sayer(Newcastle University), Usha Kini(Oxford University Hospitals NHS Trust), Sarah J. Rice(University of Manchester), Elizabeth Harris(Muscular Dystrophy UK), Jill Clayton‐Smith(St Mary's Hospital), Miguel Barroso‐Gil(Clinical Research Institute), Sarah Wedderburn(NHS Greater Glasgow and Clyde), Eugen Boltshauser(University of Zurich), Simon Ramsden(Manchester University NHS Foundation Trust), Vijayalakshmi Salem Ramakumaran, Sally Johnson(Royal Victoria Infirmary), Lorraine Cowley(Newcastle upon Tyne Hospitals NHS Foundation Trust), Marta Bértoli(Fatebenefratelli Hospital), Tara Montgomery(Newcastle upon Tyne Hospital), Eric Olinger(Cliniques Universitaires Saint-Luc), Ian Wilson(Newcastle University)
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