Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

European Journal of Human Genetics

Volumn 11, Issue 11, 2003, Pages 858-865

  Türkmen, Seval ^a,b   Gillessen Kaesbach, Gabriele ^c   Meinecke, Peter ^d   Albrecht, Beate ^c   Neumann, Luitgard M ^a   Hesse, Volker ^e   Palanduz, Sükrü ^f   Balg, Stefanie ^g   Majewski, Frank ^h   Fuchs, Sigrun ⁱ   Zschieschang, Petra ^a,b   Greiwe, Monika ^j   Mennicke, Kirsten ^j   Kreuz, Friedmar R ^k   Dehmel, Harald J ^l   Rodeck, Burkhard ^m   Kunze, Jürgen ^a   Tinschert, Sigrid ^a,b   Mundlos, Stefan ^a,b   Horn, Denise ^a  

^a HUMBOLDT UNIVERSITY   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d Altonaer Kinderkrankenhaus   (Germany)

^e MARTIN LUTHER KRANKENHAUS   (Germany)

^f ISTANBUL UNIVERSITY   (Turkey)

^g Kinderzentrum Munchen   (Germany)

^h HEINRICH HEINE UNIVERSITY   (Germany)

ⁱ UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^j UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^k DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^l Kinderarztliche Gemeinschaftpraxis   (Germany)

^m MarienHospital Osnabruck   (Germany)

more..

Author keywords

Direct sequencing; FISH; NSD1; Sotos syndrome; Weaver syndrome

Indexed keywords

CELL NUCLEUS RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; BODY GROWTH; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EUROPEAN UNION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC IDENTIFICATION; GENOTYPE PHENOTYPE CORRELATION; GESTALT THERAPY; HUMAN; JAPAN; MACROCEPHALY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR BINDING; SOTOS SYNDROME;

EID: 10744226545     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201050     Document Type: Article

References (16)

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