Deletion of NSD1 exon 14 in Sotos syndrome: First description

Journal of Genetics

Volumn 90, Issue 1, 2011, Pages 119-123

  Piccione, Maria ^a   Consiglio, Valeria ^a   Di Fiore, Antonella ^a   Grasso, Marina ^b   Cecconi, Massimiliano ^b   Perroni, Lucia ^b   Corsello, Giovanni ^a  

^a UNIVERSITY OF PALERMO   (Italy)

^b GALLIERA HOSPITAL   (Italy)

Author keywords

human genetics; multiple ligation dependent probe amplification; overgrowth; Sotos syndrome

Indexed keywords

NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE;

ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; GENE DELETION; GENETICS; HUMAN; MALE; PRESCHOOL CHILD; SOTOS SYNDROME;

CHILD, PRESCHOOL; EXONS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; NUCLEAR PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SOTOS SYNDROME;

EID: 79960076458     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-011-0017-6     Document Type: Article

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