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Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' ZC4H2 gene partial deletion
- Source :
- Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021), Clinical Case Reports
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome.
- Subjects :
- Arthrogryposis
Genetics
Medicine (General)
Fetus
Arthrogryposis multiplex congenita
business.industry
Genetic counseling
Case Report
General Medicine
Phenotype
DNA sequencing
ZC4H2 gene
Wieacker‐Wolff syndrome
R5-920
arthrogryposis multiplex congenita
Medicine
Xq11.2 deletion
medicine.symptom
business
WIEACKER-WOLFF SYNDROME
Gene
Subjects
Details
- ISSN :
- 20500904
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Clinical Case Reports
- Accession number :
- edsair.doi.dedup.....831d941c6ade6f692278a9976a58b86c
- Full Text :
- https://doi.org/10.1002/ccr3.4718