Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is genetically heterogeneous, being caused by germline mutations affecting various genes implicated in the RAS signaling network. This network transduces extracellular signals into intracellul
β¦ LIBER β¦
Noonan-like syndrome with loose anagen hair: A new syndrome?
β Scribed by Mazzanti, Laura ;Cacciari, Emanuele ;Cicognani, Alessandro ;Bergamaschi, Rosalba ;Scarano, Emanuela ;Forabosco, Antonino
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 379 KB
- Volume
- 118A
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Transcriptional hallmarks of noonan synd
β
Giovanni Battista Ferrero; Gabriele Picco; Giuseppina Baldassarre; Elisabetta Fl
π
Article
π
2012
π
John Wiley and Sons
π
English
β 342 KB
π 1 views
A new autosomal recessive syndrome with
β
Ahn, Joe K. ;Lev, Dorit ;Leshinsky-Silver, Esther ;Ginzberg, Mira ;Lerman-Sagie,
π
Article
π
2003
π
John Wiley and Sons
π
English
β 138 KB
π 2 views
Noonan syndrome associated with both a n
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations
β
Mauro Longoni; Silvia Moncini; Mariangela Cisternino; Ilaria M. Morella; Serena
π
Article
π
2010
π
John Wiley and Sons
π
English
β 341 KB
π 1 views
## Abstract Noonan syndrome is a genetic condition characterized by congenital heart defects, short stature, and characteristic facial features. Familial or de novo mutations in __PTPN11__, __RAF1__, __SOS1__, __KRAS__, and __NRAS__ are responsible for 60β75% of the cases, thus, additional genes ar
Cerebro-reno-digital (Meckel-like) syndr
β
Franceschini, Piergiorgio ;Licata, Domenico ;Guala, Andrea ;Gaglioti, Pietro ;Bo
π
Article
π
2004
π
John Wiley and Sons
π
English
β 116 KB
π 2 views
Barth's syndrome-like disorder: A new ph
β
De Kremer, Raquel Dodelson ;Paschini-Capra, Ana ;Bacman, Sandra ;ArgaraοΏ½a, Carlo
π
Article
π
2001
π
John Wiley and Sons
π
English
β 528 KB
Progressive erosive arthropathy with con
β
Teebi, Ahmad S. ;Elliott, Alison M. ;Azouz, E. Michel ;Lachman, Ralph S.
π
Article
π
2001
π
John Wiley and Sons
π
English
β 244 KB
π 1 views