Open AccessPresentation of a recurrent FMR1 missense mutation (R138Q) in an affected female
Author(s) -
Jullianne Diaz,
Cathy Scheiner,
Eyby Leon
Publication year - 2018
Publication title -
translational science of rare diseases
Language(s) - English
Resource type - Journals
eISSN - 2214-6512
pISSN - 2214-6490
DOI - 10.3233/trd-180028
Subject(s) - missense mutation , intellectual disability , fmr1 , genetics , presentation (obstetrics) , fragile x syndrome , fragile x , mutation , gene , pediatrics , medicine , biology , psychology , surgery