{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(1)"],"submitter":["Fukuda Y"],"pubmed_abstract":["We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome."],"journal":["Human genome variation"],"pagination":["11"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9019084"],"repository":["biostudies-literature"],"pubmed_title":["Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient."],"pmcid":["PMC9019084"],"pubmed_authors":["Oota T","Shoji R","Kudo Y","Kaname T","Saito M","Fukuda Y"],"additional_accession":[]},"is_claimable":false,"name":"Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient.","description":"We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Apr","modification":"2025-04-20T03:09:05.931Z","creation":"2025-02-19T01:10:19.127Z"},"accession":"S-EPMC9019084","cross_references":{"pubmed":["35440576"],"doi":["10.1038/s41439-022-00189-7"]}}