Literature DB >> 30244529

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

Mathilde Lefebvre1, Anne-Marie Beaufrere2, Christine Francannet3, Helene Laurichesse4, Charlotte Poe1, Thibaud Jouan1, Baptiste Troude3, Pierre Dechelotte2, Pierre Vabres5, Marie Briard6, Anne-Laure Mosca-Boidron7, Yannis Duffourd1, Laurence Faivre1,8, Julien Thevenon1,8, Christel Thauvin-Robinet1,8.   

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Year:  2018        PMID: 30244529     DOI: 10.1002/ajmg.a.40515

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

Review 1.  The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.

Authors:  Julian Delanne; Ange-Line Bruel; Frédéric Huet; Sébastien Moutton; Sophie Nambot; Margot Grisval; Nada Houcinat; Paul Kuentz; Arthur Sorlin; Patrick Callier; Nolwenn Jean-Marcais; Anne-Laure Mosca-Boidron; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Daphné Lehalle; Salima El Chehadeh; Christine Francannet; Marine Lebrun; Laetitia Lambert; Marie-Line Jacquemont; Marion Gerard-Blanluet; Jean-Luc Alessandri; Marjolaine Willems; Julien Thevenon; Mondher Chouchane; Véronique Darmency; Clémence Fatus-Fauconnier; Sébastien Gay; Marie Bournez; Alice Masurel; Vanessa Leguy; Yannis Duffourd; Christophe Philippe; François Feillet; Laurence Faivre; Christel Thauvin-Robinet
Journal:  Mol Genet Metab Rep       Date:  2021-10-18
  1 in total

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