{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(10)"],"submitter":["Yu H"],"pubmed_abstract":["Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. Here, we report a five-year-old boy who was diagnosed with WDSTS based on the results of Trio-based whole-exome sequencing and an assessment of his clinical features. He had intellectual disability, short stature, hirsutism, and atypical facial features, including a low hairline, down-slanting palpebral fissures, hypertelorism, long eyelashes, broad and arching eyebrows, synophrys, a bulbous nose, a broad nasal tip, and dental/oral anomalies. However, not all individuals w"],"journal":["Children (Basel, Switzerland)"],"pagination":["1545"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9600770"],"repository":["biostudies-literature"],"pubmed_title":["Wiedemann-Steiner Syndrome: Case Report and Review of Literature."],"pmcid":["PMC9600770"],"pubmed_authors":["Zhang G","Yu S","Wu W","Yu H"],"additional_accession":[]},"is_claimable":false,"name":"Wiedemann-Steiner Syndrome: Case Report and Review of Literature.","description":"Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. Here, we report a five-year-old boy who was diagnosed with WDSTS based on the results of Trio-based whole-exome sequencing and an assessment of his clinical features. He had intellectual disability, short stature, hirsutism, and atypical facial features, including a low hairline, down-slanting palpebral fissures, hypertelorism, long eyelashes, broad and arching eyebrows, synophrys, a bulbous nose, a broad nasal tip, and dental/oral anomalies. However, not all individuals w","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-04-08T18:28:01.715Z","creation":"2025-04-19T04:23:07.77Z"},"accession":"S-EPMC9600770","cross_references":{"pubmed":["36291481"],"doi":["10.3390/children9101545"]}}