{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["13(9)"],"submitter":["Ricci S"],"pubmed_abstract":["<h4>Background</h4>Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in patients with 22q11.2DS, although only a few well-structured longitudinal studies about autoimmune thyroid disease (ATD) have been reported.<h4>Aim</h4>To longitudinally evaluate the frequency of thyroid anomalies and ATD in patients with 22q11.2DS.<h4>Patients and methods</h4>Pediatric patients with a confirmed genetic diagnosis of 22q11.2DS were recruited and followed up on longitudinally. Clinical, biochemical, and immunological data "],"journal":["Genes"],"pagination":["1552"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9498530"],"repository":["biostudies-literature"],"pubmed_title":["Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study."],"pmcid":["PMC9498530"],"pubmed_authors":["Canessa C","Lippi F","Ricci S","Azzari C","Stagi S","Sarli WM","Lodi L"],"additional_accession":[]},"is_claimable":false,"name":"Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study.","description":"<h4>Background</h4>Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in patients with 22q11.2DS, although only a few well-structured longitudinal studies about autoimmune thyroid disease (ATD) have been reported.<h4>Aim</h4>To longitudinally evaluate the frequency of thyroid anomalies and ATD in patients with 22q11.2DS.<h4>Patients and methods</h4>Pediatric patients with a confirmed genetic diagnosis of 22q11.2DS were recruited and followed up on longitudinally. Clinical, biochemical, and immunological data ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2025-04-21T14:49:19.514Z","creation":"2025-04-21T14:49:19.514Z"},"accession":"S-EPMC9498530","cross_references":{"pubmed":["36140720"],"doi":["10.3390/genes13091552"]}}