Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion

Neurogenetics

Volumn 12, Issue 3, 2011, Pages 233-240

  Pizzuti, Antonio ^a   Bottillo, Irene ^b   Inzana, Francesca ^b   Lanari, Valentina ^b   Buttarelli, Francesca ^c   Torrente, Isabella ^b   Giallonardo, Anna Teresa ^c   De Luca, Alessandro ^b   Dallapiccola, Bruno ^d  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

FSNF; HSNF; Neurofibromatosis type 1; NF1; Spinal neurofibromas

Indexed keywords

ADULT; AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; FAMILIAL SPINAL NEUROFIBROMATOSIS; FEMALE; GENE; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; NEUROFIBROMATOSIS; NEUROLOGIC EXAMINATION; NF1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; AGED; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; FEMALE; GENE DELETION; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; NEUROFIBROMATOSES; PEDIGREE; SPINAL NERVES;

EID: 80052730873     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0278-5     Document Type: Article

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