A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson Syndrome

Journal of Child Neurology

Volumn 25, Issue 8, 2010, Pages 1003-1005

  Caglayan, Ahmet Okay ^a   Gumus, Hakan ^a  

^a Kayseri Education and Research Hospital ^*  (Turkey)

Author keywords

genetics; ichthyosis; neurocutaneous syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE; AMINO ACID;

ACANTHOSIS; AMINO ACID SUBSTITUTION; ARTICLE; BIRTH WEIGHT; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; ERYTHEMA; EYE EXAMINATION; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; ICHTHYOSIS; INCIDENCE; KYPHOSCOLIOSIS; LIPID STORAGE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; OXIDATION; PARALYSIS; PHAKOMATOSIS; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; SHORT STATURE; SIBLING; SJOEGREN LARSSON SYNDROME; SKIN BIOPSY; SPASTIC DIPLEGIA; SPLICING DEFECT;

CEREBRAL PALSY; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ICHTHYOSIS; INFANT; MENTAL RETARDATION; PEDIGREE; SIBLINGS; SJOGREN-LARSSON SYNDROME;

EID: 77954727261     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809348972     Document Type: Article

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