Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy

Human Genetics

Volumn 135, Issue 1, 2016, Pages 89-98

  Arai Ichinoi, Natsuko ^a   Uematsu, Mitsugu ^a   Sato, Ryo ^a   Suzuki, Tasuku ^a   Kudo, Hiroki ^a   Kikuchi, Atsuo ^a   Hino Fukuyo, Naomi ^a   Matsumoto, Mitsuyo ^b,c   Igarashi, Kazuhiko ^b   Haginoya, Kazuhiro ^d   Kure, Shigeo ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c TOHOKU UNIVERSITY   (Japan)

^d Takuto Rehabilitation Center for Children   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 18Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; COCKAYNE SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC ANALYSIS; GENETIC BACKGROUND; GENETIC HETEROGENEITY; HUMAN; HYPOMYELINATING LEUKODYSTROPHY; INFANT; LEUKODYSTROPHY; MALE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; WHITE MATTER LESION; ADOLESCENT; CHILD; CHROMOSOME BANDING PATTERN; EXOME; GENETICS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FEMALE; GENETIC HETEROGENEITY; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE;

EID: 84952719496     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-015-1617-7     Document Type: Article

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