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

[Hypochondroplasia due to the N540K mutation].

Anales de pediatria (Barcelona, Spain : 2003) - 1 Apr 2006

Bardallo Cruzado L, Bermúdez de la Vega J A, Jiménez Tejada M

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 Child
Share to Mutation
Share to Osteochondrodysplasias
Share to Receptor, Fibroblast Growth Factor, Type 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16606580
DOI: 10.1157/13086532

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

[Hypochondroplasia due to the N540K mutation].PMID 16606580Read ↗

[Achondroplasia, hypochondroplasia].Semantic proximity Read ↗

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

Growth in puberty in girls with hypochondroplasia, p.Asn540Lys-related mutations.Semantic proximity Read ↗

[Mutations in thyrotropin receptors as a cause of thyroid dysfunction].Semantic proximity Read ↗

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

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

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.Semantic proximity Read ↗

[Compound heterocygosis for intron 9 + 1 g > T and Leu850pro mutations in the SLC12A3 gene in Gitelman's syndrome].Semantic proximity Read ↗

[An unstable mutation as cause of myotonic dystrophy].Semantic proximity Read ↗

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

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 ↗

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online.Semantic proximity Read ↗

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