Data · dataset · 2025
Pfeiffer Syndrome in a Pregnant Woman Caused by an FGFR2 Gene Mutation: A Case Report
Listed in ScienceDB
This article reports the case of a pregnant woman with Pfeiffer Syndrome caused by a variation in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene.
Description
The patient had previously naturally conceived and given birth to a daughter with acrocephalosyndactyly. During a subsequent natural pregnancy, amniocentesis was performed.
Family-based whole-exome sequencing identified a heterozygous mutation c.940-2A>C in the FGFR2 gene located on chromosome 10q26.13 in the pregnant woman. The fetus was wild-type at this locus. After genetic counseling, the woman chose to continue the pregnancy.
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A detailed Level III fetal structural screening conducted at another hospital showed no abnormalities. She subsequently gave birth to a healthy son.
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.zhwcyxzz.00010 ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Sequencing 75%
Provenance · 1 source records, 11 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.zhwcyxzz.00010 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · scidb cn | keyword-concept-rules@1.0.0 | title+description (75%) |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/rights |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |