{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["1(3)"],"submitter":["Toader DO"],"pubmed_abstract":["<h4>Background/aim</h4>The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a \"de novo\" pathogenic variant of PUF60 gene.<h4>Case report</h4>Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy. During her routine first-trimester anomaly scan, increased nuchal translucency was noticed. Multiple anomalies were seen throughout her subsequent antenatal visits. This triggered a sequence of tests, examinations and differential diagnosis. The final diagnosis was made at 5 months postpartum following the result of the whole exome sequence, which described a variant of unknown clinical significance (VUS, class 3 variant) in the PU"],"journal":["Cancer diagnosis & prognosis"],"pagination":["213-219"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8962785"],"repository":["biostudies-literature"],"pubmed_title":["Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review."],"pmcid":["PMC8962785"],"pubmed_authors":["Bacalbasa N","Balescu I","Furtunescu F","Cretoiu D","Ursu R","Pop LG","Toader DO","Radavoi D","Gherghiceanu F","Radoi V"],"additional_accession":[]},"is_claimable":false,"name":"Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review.","description":"<h4>Background/aim</h4>The aim of the study was to report the case of a 5-month-old boy with a complex prenatal and neonatal symptomatology diagnosed with a \"de novo\" pathogenic variant of PUF60 gene.<h4>Case report</h4>Our hospital, undertook the antenatal and postnatal care of a 27-year-old pregnant lady. This was her second baby with a previously healthy boy. During her routine first-trimester anomaly scan, increased nuchal translucency was noticed. Multiple anomalies were seen throughout her subsequent antenatal visits. This triggered a sequence of tests, examinations and differential diagnosis. The final diagnosis was made at 5 months postpartum following the result of the whole exome sequence, which described a variant of unknown clinical significance (VUS, class 3 variant) in the PU","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul-Aug","modification":"2025-04-18T16:40:35.459Z","creation":"2025-04-07T04:00:50.576Z"},"accession":"S-EPMC8962785","cross_references":{"pubmed":["35399315"],"doi":["10.21873/cdp.10029"]}}