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

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.

Prenatal diagnosis - 1 Feb 2001

Chen C P, Chern S R, Shih J C, Wang W, Yeh L F, Chang T Y, Tzen C Y

Abstract excerpt

Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias. Prenatal sonographic and molecular genetic diagnoses of three cases of TD type I (TD1) and one case of TD type II (TD2) are presented here. Two fetuses of TD1 were characterized by polyhydramnios, macrocep...

Read the complete abstract on PubMed

Topics

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

Share to DNA Restriction Enzymes
Share to Gestational Age
Share to Prenatal Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Radiography

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Share to Thanatophoric Dysplasia

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 11241532
DOI: 10.1002/1097-0223(200102)21:2<89::aid-pd21>3.0.co;2-9

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11241532-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.PMID 11241532Read ↗

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.Semantic proximity Read ↗

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

A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.Semantic proximity Read ↗

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

Thanatophoric dysplasia type I.Semantic proximity Read ↗

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.Semantic proximity Read ↗

Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.Semantic proximity Read ↗

An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.Semantic proximity Read ↗

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

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.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 ↗

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