{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16"],"submitter":["Ea C"],"pubmed_abstract":["<h4>Objective</h4>Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating <i>Fibroblast Growth Factor Receptor</i> (<i>FGFR</i>) 1-3 mutations. Gain-of-function <i>FGFR3</i> mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with <i>FGFR</i>-related faciocraniosynostoses may present extra-cranial growth anomalies.<h4>Study design</h4>We retrospectively collected height and weight data from a cohort of 70 patients. Included patients were admitted for <i>FGFR</i>-related FCS between 200"],"journal":["Bone reports"],"pagination":["101524"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8965158"],"repository":["biostudies-literature"],"pubmed_title":["Growth charts in <i>FGFR2</i>- and <i>FGFR3</i>-related faciocraniosynostoses."],"pmcid":["PMC8965158"],"pubmed_authors":["Collet C","Hennocq Q","Picard A","Polak M","Khonsari RH","Legeai-Mallet L","Paternoster G","Arnaud E","Ea C"],"additional_accession":[]},"is_claimable":false,"name":"Growth charts in <i>FGFR2</i>- and <i>FGFR3</i>-related faciocraniosynostoses.","description":"<h4>Objective</h4>Faciocraniosynostoses (FCS) are malformations affecting the development of the bones of the skull and face, due to the premature closure of one or more craniofacial sutures, mostly secondary to activating <i>Fibroblast Growth Factor Receptor</i> (<i>FGFR</i>) 1-3 mutations. Gain-of-function <i>FGFR3</i> mutations are also responsible for various conditions referred to as osteochondrodysplasia (OCD), characterized by structural and functional abnormalities of growth plate cartilages. We hypothesized that patients with <i>FGFR</i>-related faciocraniosynostoses may present extra-cranial growth anomalies.<h4>Study design</h4>We retrospectively collected height and weight data from a cohort of 70 patients. Included patients were admitted for <i>FGFR</i>-related FCS between 200","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2025-04-04T23:16:26.688Z","creation":"2025-04-04T23:16:26.688Z"},"accession":"S-EPMC8965158","cross_references":{"pubmed":["35372644"],"doi":["10.1016/j.bonr.2022.101524"]}}