Ontology highlight
ABSTRACT:
SUBMITTER: Statland JM
PROVIDER: S-EPMC3691782 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Statland Jeffrey M JM Sacconi Sabrina S Farmakidis Constantine C Donlin-Smith Colleen M CM Chung Mina M Tawil Rabi R
Neurology 20130227 13
<h4>Objective</h4>To investigate the frequency of Coats syndrome and its association with D4Z4 contraction size in patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1).<h4>Methods</h4>We searched a North American FSHD registry and the University of Rochester (UR) FSHD research database, reviewed the literature, and sent surveys to 14 FSHD referral centers in the United States and overseas to identify patients with genetically confirmed FSHD1 with a diagnosis of Coats syndrome.<h4> ...[more]