Facial anomalies in D-2-hydroxyglutaric aciduria.
Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A.
Amiel J, et al.
Am J Med Genet. 1999 Sep 10;86(2):124-9.
Am J Med Genet. 1999.
PMID: 10449646
Review.
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. ...Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epi …
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. . …