Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families

European Journal of Paediatric Neurology

Volumn 17, Issue 1, 2013, Pages 108-111

  Traverso, Monica ^a   Yuregir, Ozge Ozalp ^b   Mimouni Bloch, Aviva ^c   Rossi, Andrea ^a   Aslan, Huseyin ^b   Gazzerro, Elisabetta ^a   Baldassari, Simona ^a   Fruscione, Floriana ^a   Minetti, Carlo ^a   Zara, Federico ^a   Biancheri, Roberta ^a  

^a G GASLINI INSTITUTE   (Italy)

^b Numune Education and Research Hospital   (Turkey)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

Cataract; MRI; Myelination; White matter disorder

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CATARACT; CHILD; CLINICAL FEATURE; DEMYELINATING DISEASE; DISEASE SEVERITY; FAMILY; FEMALE; HUMAN; HYPOMYELINATION; MALE; MUTATION; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WHITE MATTER;

ADOLESCENT; CATARACT; FAMILY; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; PEDIGREE; YOUNG ADULT;

EID: 84872118492     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.06.004     Document Type: Article

References (7)

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