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Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' ZC4H2 gene partial deletion

Authors :
Yves Sznajer
Armelle Duquenne
Charlotte Deneufbourg
Jean-Marc Biard
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.

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