Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant.

Arquivos de neuro-psiquiatria - 1 Jul 2021

Mimura Paula Maria Preto, Castro José Thiago de Souza de, Jarry Vinicius de Menezes, França Júnior Marcondes Cavalcanti, Reis Fabiano

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone and Bones
Share to Dwarfism
Share to Limb Deformities, Congenital
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 34133497
DOI: 10.1590/0004-282X-ANP-2020-0424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant.PMID 34133497Read ↗

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.Semantic proximity Read ↗

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.Semantic proximity Read ↗

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.Semantic proximity Read ↗

FGFR3 mutations and medial temporal lobe dysgenesis.Semantic proximity Read ↗

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?Semantic proximity Read ↗

[Hypochondroplasia due to the N540K mutation].Semantic proximity Read ↗

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.Semantic proximity Read ↗

Genotype and phenotype in hypochondroplasia.Semantic proximity Read ↗

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.Semantic proximity Read ↗

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.