Genomic imbalances defining novel intellectual disability associated loci.
Fátima LopesFátima TorresGabriela SoaresMafalda BarbosaJoão SilvaFrederico DuqueMiguel RochaJoaquim SáGuiomar OliveiraMaria João SáTeresa TemudoSusana SousaCarla MarquesSofia LopesCatarina GomesGisela BarrosArminda JorgeFelisbela RochaCecília MartinsSandra MesquitaSusana LoureiroElisa Maria CardosoMaria José CálixAndreia DiasCristina MartinsCéu R MotaDiana AntunesJuliette DupontSara FigueiredoSónia FigueiroaSusana Gama-de-SousaSara CruzAdriana SampaioPaul EijkMarjan M WeissBauke YlstraPaula RendeiroPurificação TavaresMargarida Reis-LimaJorge Pinto-BastoAna Maria FortunaPatrícia MacielPublished in: Orphanet journal of rare diseases (2019)
Identification of such rare CNVs (some of which reported for the first time in ID patients/families) contributes to our understanding of the etiology of ID and for the ever-improving diagnosis of this group of patients.