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2 results on '"Charlotte Deneufbourg"'

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

Author

Charlotte Deneufbourg, Armelle Duquenne, Jean‐Marc Biard, and Yves Sznajer

Subjects
arthrogryposis multiplex congenita, Wieacker‐Wolff syndrome, Xq11.2 deletion, ZC4H2 gene, Medicine, Medicine (General), R5-920
Abstract

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.

Published
2021
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2. Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' ZC4H2 gene partial deletion

Author

Yves Sznajer, Armelle Duquenne, Charlotte Deneufbourg, and Jean-Marc Biard

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
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.

Published
2021

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