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

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

Taiwanese journal of obstetrics & gynecology - 1 Dec 2013

Chen Chih-Ping, Su Yi-Ning, Lin Tzu-Hung, Chang Tung-Yao, Su Jun-Wei, Wang Wayseen

Abstract excerpt

OBJECTIVE: We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. CASE REPORT: A 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed dwarfism in the fetus. The woman had a body height of 152 cm. Her husband had a body height of 180 cm. Level II...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Bone and Bones

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Dwarfism

Share to Fetal Diseases

Share to Limb Deformities, Congenital

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 24411048
DOI: 10.1016/j.tjog.2013.10.023

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.PMID 24411048Read ↗

Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Severe phenotype of a heterozygous with variant on FGFR3 in the second trimester: a case reportSemantic proximity Read ↗

Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome.Semantic proximity Read ↗

Achondroplasia-hypochondroplasia complex in a newborn infant.Semantic proximity Read ↗

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.Semantic proximity Read ↗

Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia.Semantic proximity Read ↗

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

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus.Semantic proximity Read ↗

An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.Semantic proximity Read ↗

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.Semantic proximity Read ↗

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.Semantic proximity Read ↗

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