{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pan L"],"funding":["the National Natural Science Foundation of China"],"pagination":["294-301"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10930350"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["48(2)"],"pubmed_abstract":["Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of <i>PHF6</i> gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodacty"],"journal":["Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences"],"pubmed_title":["Borjeson<b>-</b>Forssman<b>-</b>Lehmann syndrome: A case report."],"pmcid":["PMC10930350"],"funding_grant_id":["817714081"],"pubmed_authors":["Xiong J","He F","Yin F","Pan L","Chen S","Peng J"],"additional_accession":[]},"is_claimable":false,"name":"Borjeson<b>-</b>Forssman<b>-</b>Lehmann syndrome: A case report.","description":"Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of <i>PHF6</i> gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodacty","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-04T19:15:31.377Z","creation":"2025-04-04T19:15:31.377Z"},"accession":"S-EPMC10930350","cross_references":{"pubmed":["36999477"],"doi":["10.11817/j.issn.1672-7347.2023.220414"]}}