Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

American Journal of Human Genetics

Volumn 89, Issue 6, 2011, Pages 745-750

  Aldahmesh, Mohammed A ^a   Mohamed, Jawahir Y ^a   Alkuraya, Hisham S ^a,b   Verma, Ishwar C ^c   Puri, Ratna D ^c   Alaiya, Ayodele A ^a   Rizzo, William B ^d   Alkuraya, Fowzan S ^a,e,f  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD NATIONAL GUARD HOSPITAL   (Saudi Arabia)

^c SIR GANGA RAM HOSPITAL   (India)

^d UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^e KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^f ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARACHIS OIL; FATTY ALDEHYDE DEHYDROGENASE; OXIDOREDUCTASE; RNA; TRANSFER RNA; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

ARTICLE; CLINICAL FEATURE; ELOVL4 GENE; ENZYME ACTIVITY; FATTY ACID SYNTHESIS; GENE; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; HUMAN; ICHTHYOSIS; INTELLECTUAL IMPAIRMENT; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; RECESSIVE GENE; RETINA MACULA DEGENERATION; RNA TRANSCRIPTION; SJOEGREN LARSSON SYNDROME; SPASTIC QUADRIPLEGIA;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; EXOME; EYE PROTEINS; FATAL OUTCOME; FATTY ACIDS; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; ICHTHYOSIS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; QUADRIPLEGIA; SEQUENCE ANALYSIS, DNA;

MURINAE; MUS;

EID: 83555175990     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.10.011     Document Type: Article

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