Research graph
References from Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature. Local targets link to admitted publications; unresolved targets remain external evidence.
Definition and prevalence of familial short stature
10.1186/s13052-021-01018-3 · 2021 · External reference
Chinese expert consensus on the diagnosis and treatment of children with idiopathic short stature
10.19538/j.ek2023110601 · 2023 · External reference
FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway
10.1093/hmg/ddn339 · 2009 · External reference
Fibroblast growth factor (FGF) 18 signals through FGF receptor 3 to promote chondrogenesis
10.1074/jbc.m410148200 · 2005 · External reference
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias
10.1002/humu.21636 · 2012 · External reference
Pathways to facilitate early recognition and diagnosis of hypochondroplasia
10.1007/s12325-026-03526-2 · 2026 · External reference
Growth reference charts for children with hypochondroplasia
10.1002/ajmg.a.63431 · 2024 · External reference
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures
10.3389/fgene.2024.1364441 · 2024 · External reference
A novel variant of FGFR3 causes proportionate short stature
10.1530/eje-14-0945 · 2015 · External reference
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy
2012 · External reference
Disproportionate stature but normal height in hypochondroplasia
10.1007/s00431-005-1640-0 · 2005 · External reference
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
10.1002/ajmg.a.10238 · 2003 · External reference
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
10.1136/jmg.37.3.220 · 2000 · External reference
Pediatric continuous reference intervals of serum insulin-like growth factor 1 levels in a healthy Chinese children population - based on PRINCE study
10.1016/j.eprac.2022.04.004 · 2022 · External reference
Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3
10.1073/pnas.88.4.1095 · 1991 · External reference
Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II
10.1128/mcb.16.8.4081 · 1996 · External reference
Functional profiling of serine, threonine and tyrosine sites
10.1038/s41589-024-01731-0 · 2025 · External reference
Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use
10.18632/oncotarget.8132 · 2016 · External reference
Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop
10.1210/jc.2008-0509 · 2008 · External reference
History of GH treatment in Japan
10.1297/cpe.2021-0044 · 2022 · External reference
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis
10.2217/pgs.15.129 · 2015 · External reference
Evaluation of efficacy of long-term growth hormone therapy in patients with hypochondroplasia
10.4274/jcrpe.0043 · 2018 · External reference
Vosoritide treatment for children with hypochondroplasia: a phase 2 trial
10.1016/j.eclinm.2024.102591 · 2024 · External reference
