Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

European Journal of Paediatric Neurology

Volumn 18, Issue 4, 2014, Pages 511-515

  Wolthuis, David F G J ^a,b   Van Asbeck, Ellyze ^a,b   Mohamed, Miski ^a,b   Gardeitchik, Thatjana ^a,b   Lim Melia, Elizabeth R ^c   Wevers, Ron A ^b   Morava, Eva ^a,b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c NEW YORK MEDICAL COLLEGE   (United States)

Author keywords

Abnormal fat distribution; ALDH18A1; Cutis laxa; Retinopathy

Indexed keywords

1 PYRROLINE 5 CARBOXYLATE SYNTHASE; MITOCHONDRIAL ENZYME; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; ALDH1A1 PROTEIN, HUMAN;

BODY FAT; BODY FAT DISTRIBUTION; CASE REPORT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CRYPTORCHISM; CUTIS LAXA; EXON; FAILURE TO THRIVE; FOLLOW UP; HUMAN; INFRAPATELLAR FAT BODY; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; MALE; MICROCEPHALY; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; RETINOPATHY; REVIEW; SEQUENCE ANALYSIS; SHORT STATURE; SPEECH DELAY; ADIPOSE TISSUE; COMPLICATION; GENETICS; MUTATION; PATHOLOGY; RETINA DISEASE;

ADIPOSE TISSUE; ALDEHYDE DEHYDROGENASE; CHILD, PRESCHOOL; CUTIS LAXA; HUMANS; MALE; MUTATION; RETINAL DISEASES;

EID: 84903169926     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.01.003     Document Type: Article

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