Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

Pediatric Neurology

Volumn 34, Issue 6, 2006, Pages 486-489

  Yüksel, Adnan ^a   Seven, Mehmet ^a   Cetincelik, Ümran ^b   Yeşil, Gözde ^a   Köksal, Vedat ^c  

^a ISTANBUL UNIVERSITY   (Turkey)

^b Sisli Etfal Research Hospital   (Turkey)

^c Special Molecular Genetic Diagnosis and Research Laboratory   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SURF 1; UNCLASSIFIED DRUG;

ARTICLE; BRACHYCEPHALY; BRAIN DAMAGE; BRAIN STEM; CASE REPORT; CONVERGENT STRABISMUS; CYTOCHROME C OXIDASE DEFICIENCY; ELECTROENCEPHALOGRAPHY; FACE DYSMORPHIA; FACIES; FRONTAL BOSSING; GENE MUTATION; HUMAN; HYPERTRICHOSIS; HYPERTROPHY; HYPOPLASIA; LEIGH DISEASE; MALE; MEDULLA OBLONGATA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA; SUBSTANTIA NIGRA; SUBTHALAMIC NUCLEUS; TEGMENTUM; THETA RHYTHM;

CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; CYTOCHROME-C OXIDASE DEFICIENCY; HUMANS; INFANT; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS;

EID: 33744814911     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.10.020     Document Type: Article

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