A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation

Annals of Indian Academy of Neurology

Volumn 16, Issue 3, 2013, Pages 425-427

  Incecik, Faruk ^a   Herguner, Ozlem M ^a   Rizzo, Wiliam B ^b   Altunbasak, Sakir ^a  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

Ichthyosis; mental retardation; mutation; spastic diplegia

Indexed keywords

ALDEHYDE DEHYDROGENASE; VALPROIC ACID;

ADULT; ALDH3A2 GENE; ARTICLE; CASE REPORT; CEREBRAL PALSY; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAPHY; EXON; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; MALE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; PHYSICAL EXAMINATION; SCHOOL CHILD; SJOEGREN LARSSON SYNDROME; TANDEM MASS SPECTROMETRY; TENDON REFLEX; TONIC CLONIC SEIZURE;

EID: 84883658367     PISSN: 09722327     EISSN: 19983549     Source Type: Journal    
DOI: 10.4103/0972-2327.116927     Document Type: Article

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