Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

6533b86dfe1ef96bd12c94f1

RESEARCH PRODUCT

Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

Anne-laure Mosca-boidron Thibaud Jouan Marie Briard Christel Thauvin-robinet Mathilde Lefebvre Baptiste Troude Pierre Déchelotte Laurence Faivre Hélène Laurichesse Julien Thevenon Anne-marie Beaufrère Charlotte Poe Christine Francannet Yannis Duffourd Pierre Vabres

subject

0301 basic medicine Pathology medicine.medical_specialty Fetus ALDH18A1 Corpus Callosum Agenesis business.industry Genes Recessive Aldehyde Dehydrogenase 030105 genetics & heredity medicine.disease Magnetic Resonance Imaging Cutis Laxa 03 medical and health sciences Fetus [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Genetics medicine Humans Agenesis of Corpus Callosum business Alleles Genetics (clinical)Cutis laxa

description

IF 3.822 (2018); International audience

year	journal	country	edition	language
2018-09-23

10.1002/ajmg.a.40515 https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01943910

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