Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

Brain and Development

Volumn 34, Issue 10, 2012, Pages 852-856

  Torisu, Hiroyuki ^a   Iwaki, Akiko ^b   Takeshita, Kenzo ^c   Hiwatashi, Akio ^a   Sanefuji, Masafumi ^a   Fukumaki, Yasuyuki ^b   Hara, Toshiro ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c NPO Child Guidance Center   (Japan)

Author keywords

Nonhomologous end joining; Pelizaeus Merzbacher disease; PLP1; PLP1 null syndrome

Indexed keywords

CREATINE; N ACETYLASPARTIC ACID;

ARTICLE; BASE PAIRING; BRAIN REGION; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; DNA END JOINING REPAIR; EVOKED BRAIN STEM AUDITORY RESPONSE; GENE; GENE DELETION; GENE MAPPING; GENETIC ANALYSIS; HUMAN; LATENT PERIOD; MALE; MENTAL DEFICIENCY; MICROCEPHALY; NERVE CONDUCTION; NERVE FIBER; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PLP1 GENE; PROTON NUCLEAR MAGNETIC RESONANCE; QUADRIPLEGIA; RAB9B GENE; SEQUENCE ANALYSIS; WHITE MATTER;

CHILD, PRESCHOOL; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; GENE DELETION; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION;

EID: 84867725877     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.02.006     Document Type: Article

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