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

Long-term survival in typical thanatophoric dysplasia type 1

27 Jun 1997

Abstract excerpt

Thanatophoric dysplasia (TD), a severe skeletal dysplasia, is virtually always lethal neonatally, although a few previous reports have documented survival up to 4.75 years. We present a patient with survival beyond age 9 years and summarize his growth, development and medical history. The common Arg248Cys mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3) was identified,...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Dental Protein Studies
Share to Connective tissue disorders research
Share to Fibroblast Growth Factor Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9182787
DOI: 10.1002/(sici)1096-8628(19970627)70:4<427::aid-ajmg18>3.0.co;2-j

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

Long-term survival in typical thanatophoric dysplasia type 1PMID 9182787Read ↗

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.Semantic proximity Read ↗

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.Semantic proximity Read ↗

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.Semantic proximity Read ↗

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia-FGFR2-Related.Semantic proximity Read ↗

Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.Semantic proximity Read ↗

Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.Semantic proximity Read ↗

Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.Semantic proximity Read ↗

Thanatophoric dysplasia: prevalence, clinical characteristics, and molecular findings in a public hospital from Western Mexico.Semantic proximity Read ↗

Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.Semantic proximity Read ↗

Early prenatal presentation of the cartilage-hair hypoplasia / anauxetic dysplasia spectrum of disorders mimicking recurrent thanatophoric dysplasia.Semantic proximity Read ↗

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.Semantic proximity Read ↗

Crouzon syndrome with acanthosis nigricans: a case-based update.Semantic proximity Read ↗

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