Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Nature Genetics

Volumn 38, Issue 9, 2006, Pages 1032-1037

  Shaw Smith, Charles ^a   Pittman, Alan M ^b   Willatt, Lionel ^c   Martin, Howard ^c   Rickman, Lisa ^a   Gribble, Susan ^d   Curley, Rebecca ^d   Cumming, Sally ^c   Dunn, Carolyn ^c   Kalaitzopoulos, Dimitrios ^d   Porter, Keith ^d   Prigmore, Elena ^d   Krepischi Santos, Ana C V ^e   Varela, Monica C ^e   Koiffmann, Celia P ^e   Lees, Andrew J ^b   Rosenberg, Carla ^e   Firth, Helen V ^a   De Silva, Rohan ^b   Carter, Nigel P ^d  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 17; CHROMOSOME DELETION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HAPLOTYPE; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; LEARNING DISORDER; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC MARKERS; HAPLOTYPES; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; LEARNING DISORDERS; MALE; NUCLEIC ACID HYBRIDIZATION; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; REPETITIVE SEQUENCES, NUCLEIC ACID; TAU PROTEINS;

EID: 33748300645     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1858     Document Type: Article

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