Genotype-phenotype correlation in patients suspected of having Sotos syndrome

Hormone Research

Volumn 62, Issue 4, 2004, Pages 197-207

  De Boer, Lonneke ^a   Kant, Sarina G ^a   Karperien, Marcel ^a   Van Beers, Lotte ^a   Tjon, Jennifer ^a   Vink, Geraldine R ^a   Van Tol, Dewy ^a   Dauwerse, Hans ^a   Le Cessie, Saskia ^a   Beemer, Frits A ^b   Van Der Burgt, Ineke ^c   Hamel, Ben C J ^c   Hennekam, Raoul C ^d   Kuhnle, Ursula ^h   Mathijssen, Inge B ^d   Veenstra Knol, Hermine E ^e   Stumpel, Connie T Schrander ^f,g   Breuning, Martijn H ^a   Wit, Jan M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^g MAASTRICHT UNIVERSITY   (Netherlands)

^h Center for Child/Adolescent Health   (Germany)

Author keywords

Fluorescent in situ hybridization; Mutation analysis; NSD1 gene; Overgrowth syndrome; Sotos syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BLOOD SAMPLING; CHILD; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DOWNWARD PALPEBRAL SLANT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAW MALFORMATION; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; METABOLIC BONE DISEASE; MISSENSE MUTATION; MUTAGENESIS; NONSENSE MUTATION; NSD1 GENE; PRIORITY JOURNAL; SOTOS SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MENTAL RETARDATION; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 7544229749     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000081063     Document Type: Article

References (18)

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