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

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TitreExtending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis
Type de publicationJournal Article
Year of Publication2018
AuteursLefebvre M, Beaufrere A-M, Francannet C, Laurichesse H, Poe C, Jouan T, Troude B, Dechelotte P, Vabres P, Briard M, Mosca-Boidron A-L, Duffourd Y, Faivre L, Thevenon J, Thauvin-Robinet C
JournalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume176
Pagination2509-2512
Date PublishedNOV
Type of ArticleLetter
ISSN1552-4825
DOI10.1002/ajmg.a.40515