Haploinsufficiency of NSD1 causes Sotos syndrome

Nature Genetics

Volumn 30, Issue 4, 2002, Pages 365-366

  Kurotaki, Naohiro ^a,b   Imaizumi, Kiyoshi ^c   Harada, Naoki ^a,b,d   Masuno, Mitsuo ^c   Kondoh, Tatsuro ^a   Nagai, Toshiro ^e   Ohashi, Hirofumi ^b,f   Naritomi, Kenji ^b,g   Tsukahara, Masato ^h   Makita, Yoshio ⁱ   Sugimoto, Tateo ^j   Sonoda, Tohru ^k   Hasegawa, Tomoko ^l   Chinen, Yasuaki ^g   Tomita, Hiro aki ^a,b   Kinoshita, Akira ^a,b   Mizuguchi, Tsuyoshi ^a   Yoshiura, Koh ichiro ^a,b   Ohta, Tohru ^m   Kishino, Tatsuya ^b   Fukushima, Yoshimitsu ^b,n   Niikawa, Norio ^a,b   Matsumoto, Naomichi ^a,b   more..

^a NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d Kyushu Medical Science Nagasaki Laboratory   (Japan)

^e DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^g UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

^h YAMAGUCHI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁱ ASAHIKAWA MEDICAL COLLEGE   (Japan)

^j KANSAI MEDICAL UNIVERSITY   (Japan)

^k UNIVERSITY OF MIYAZAKI   (Japan)

^l SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^m NAGASAKI UNIVERSITY   (Japan)

ⁿ SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; FRAMESHIFT MUTATION; GENE MUTATION; HAPLOTYPE; HUMAN; MENTAL RETARDATION MALFORMATION SYNDROME; NEUROLOGIC DISEASE; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; SOTOS SYNDROME;

ACROMEGALY; BASE SEQUENCE; CARRIER PROTEINS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 5; CLONING, MOLECULAR; CODON, NONSENSE; COSMIDS; DNA, COMPLEMENTARY; EXONS; FACIAL BONES; FRAMESHIFT MUTATION; GENE DELETION; GIGANTISM; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID; SYNDROME; TRANSLOCATION, GENETIC;

EID: 18544384537     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng863     Document Type: Article

References (10)