Mutations in theERCC2(XPD) gene associated with severe fetal ichthyosis and dysmorphic features

6533b835fe1ef96bd129fd20

RESEARCH PRODUCT

Mutations in theERCC2(XPD) gene associated with severe fetal ichthyosis and dysmorphic features

Aurélie Bourchany Dan Lipsker Sylvie Fraitag Maria Cristina Antal Rosalie Abida Hélène Dollfus Jamel Chelly Mathilde Lefebvre Nadège Calmels Fanny Morice-picard Salima El Chehadeh Christel Thauvin-robinet Marie Gonzales Laurence Faivre Vincent Laugel A. S. Weingertner Pierre Vabres Julien Thevenon Jean-baptiste Rivière Yannis Duffourd Marguerite Miguet Elise Schaefer Valérie Kremer Jean-louis Mandel

subject

0301 basic medicine Genetics Fetus business.industry Ichthyosis Obstetrics and Gynecology 030105 genetics & heredity medicine.disease 03 medical and health sciences Text mining Medicine ERCC2 business Gene Genetics (clinical)

year	journal	country	edition	language
2016-12-01	Prenatal Diagnosis

https://doi.org/10.1002/pd.4965

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