Haploinsufficiency of NSD1 causes Sotos syndrome.

Kurotaki, Naohiro; Imaizumi, Kiyoshi; Harada, Naoki; Masuno, Mitsuo; Kondoh, Tatsuro; Nagai, Toshiro; Ohashi, Hirofumi; Naritomi, Kenji; Tsukahara, Masato; Makita, Yoshio; Sugimoto, Tateo; Sonoda, Tohru; Hasegawa, Tomoko; Chinen, Yasuaki; Tomita Ha, Hiro-aki; Kinoshita, Akira; Mizuguchi, Tsuyoshi; Yoshiura Ki, Koh-ichiro; Ohta, Tohru; Kishino, Tatsuya; Fukushima, Yoshimitsu; Niikawa, Norio; Matsumoto, Naomichi

Kurotaki, Naohiro; Imaizumi, Kiyoshi; Harada, Naoki; Masuno, Mitsuo; Kondoh, Tatsuro; Nagai, Toshiro; Ohashi, Hirofumi; Naritomi, Kenji; Tsukahara, Masato; Makita, Yoshio; Sugimoto, Tateo; Sonoda, Tohru; Hasegawa, Tomoko; Chinen, Yasuaki; Tomita Ha, Hiro-aki; Kinoshita, Akira; Mizuguchi, Tsuyoshi; Yoshiura Ki, Koh-ichiro; Ohta, Tohru; Kishino, Tatsuya; Fukushima, Yoshimitsu; Niikawa, Norio; Matsumoto, Naomichi.

Affiliation

Kurotaki N; Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan.

Nat Genet ; 30(4): 365-6, 2002 Apr.

Article in En | MEDLINE | ID: mdl-11896389

Subject(s)

Acromegaly/genetics; Carrier Proteins/genetics; Intracellular Signaling Peptides and Proteins; Nuclear Proteins/genetics; Base Sequence; Chromosome Mapping; Chromosomes, Human, Pair 5; Cloning, Molecular; Codon, Nonsense; Cosmids; DNA, Complementary/metabolism; Exons; Facial Bones/abnormalities; Frameshift Mutation; Gene Deletion; Gigantism/genetics; Growth Disorders/genetics; Heterozygote; Histone Methyltransferases; Histone-Lysine N-Methyltransferase; Humans; In Situ Hybridization, Fluorescence; Models, Genetic; Molecular Sequence Data; Sequence Homology, Nucleic Acid; Syndrome; Translocation, Genetic

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Collection: 01-internacional Database: MEDLINE Main subject: Acromegaly / Nuclear Proteins / Carrier Proteins / Intracellular Signaling Peptides and Proteins Type of study: Etiology_studies Limits: Humans Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 2002 Type: Article Affiliation country: Japan

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