Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

American Journal of Medical Genetics

Volumn 134 A, Issue 3, 2005, Pages 247-253

  Cecconi, M ^a   Forzano, F ^a   Milani, D ^b   Cavani, S ^a   Baldo, C ^a   Selicorni, A ^b   Pantaleoni, C ^c   Silengo, M ^d   Ferrero, G B ^d   Scarano, G ^e   Della Monica, M ^e   Fischetto, R ^f   Grammatico, P ^g   Majore, S ^g   Zampino, G ^h   Memo, L ⁱ   Cordisco, E Lucci ^h   Neri, G ^h   Pierluigi, M ^a   Bricarelli, F Dagna ^a   Grasso, M ^a   Faravelli, Francesca ^a   more..

^a GALLIERA HOSPITAL   (Italy)

^b Clinica Pediatrica De Marchi   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e UO Genetica Medica   (Italy)

^f Genetica Medica   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h CATHOLIC UNIVERSITY   (Italy)

ⁱ OSPEDALE CA FONCELLO   (Italy)

Author keywords

NSD1; Overgrowth; Sotos syndrome

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ABNORMAL BODY BUILD; ARTICLE; BONE AGE; CHILD; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAPAN; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NSD1 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEIZURE; SKELETON MALFORMATION; SOTOS SYNDROME; UROGENITAL TRACT MALFORMATION; WEAVER SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, GENETIC; SYNDROME;

EID: 20144387331     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30492     Document Type: Article

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