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Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis
Author(s) -
Lefebvre Mathilde,
Beaufrere AnneMarie,
Francannet Christine,
Laurichesse Helene,
Poe Charlotte,
Jouan Thibaud,
Troude Baptiste,
Dechelotte Pierre,
Vabres Pierre,
Biard Marie,
MoscaBoidron AnneLaure,
Duffourd Yannis,
Faivre Laurence,
Theve Julien,
ThauvinRobinet Christel
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40515
Subject(s) - agenesis of the corpus callosum , cutis laxa , corpus callosum , agenesis , fetus , anatomy , pathology , medicine , biology , pregnancy , genetics