Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair

Human Mutation

Volumn 33, Issue 4, 2012, Pages 703-709

  Ferrero, Giovanni Battista ^a   Picco, Gabriele ^a,b   Baldassarre, Giuseppina ^a   Flex, Elisabetta ^c   Isella, Claudio ^a,b   Cantarella, Daniela ^a,b   Corà, Davide ^b   Chiesa, Nicoletta ^a   Crescenzio, Nicoletta ^a   Timeus, Fabio ^a   Merla, Giuseppe ^d   Mazzanti, Laura ^e   Zampino, Giuseppe ^f   Rossi, Cesare ^g   Silengo, Margherita ^a   Tartaglia, Marco ^c   Medico, Enzo ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b CANDIOLO CANCER INSTITUTE   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f CATHOLIC UNIVERSITY   (Italy)

^g UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Noonan syndrome; PTPN11; RASopathies; SHOC2; SOS1

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE SHP 2; SOS PROTEIN;

ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSDUCTION; HUMAN; HUMAN CELL; LOOSE ANAGEN HAIR SYNDROME; NOONAN SYNDROME; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL;

CASE-CONTROL STUDIES; FEMALE; GENE EXPRESSION PROFILING; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEUKOCYTES, MONONUCLEAR; MALE; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; RAS PROTEINS; SIGNAL TRANSDUCTION; SOS1 PROTEIN; TRANSCRIPTION, GENETIC;

EID: 84858298190     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22026     Document Type: Article

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