Cargando…
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances
Autism Spectrum Disorder (ASD) refers to a broad range of conditions characterized by difficulties in communication, social interaction and behavior, and may be accompanied by other medical or psychiatric conditions. Patients with ASD and comorbidities are often difficult to diagnose because of the...
Autores principales: | Cerminara, Maria, Spirito, Giovanni, Pisciotta, Livia, Squillario, Margherita, Servetti, Martina, Divizia, Maria Teresa, Lerone, Margherita, Berloco, Bianca, Boeri, Silvia, Nobili, Lino, Vozzi, Diego, Sanges, Remo, Gustincich, Stefano, Puliti, Aldamaria |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7930735/ https://www.ncbi.nlm.nih.gov/pubmed/33679889 http://dx.doi.org/10.3389/fgene.2021.625564 |
Ejemplares similares
-
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs
por: Servetti, Martina, et al.
Publicado: (2021) -
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
por: Tassano, Elisa, et al.
Publicado: (2015) -
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome
por: Vaccari, Carlotta Maria, et al.
Publicado: (2014) -
Impact of polymorphic transposable elements on transcription in lymphoblastoid cell lines from public data
por: Spirito, Giovanni, et al.
Publicado: (2019) -
Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion
por: Tassano, Elisa, et al.
Publicado: (2015)