Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Cardio‐facio‐cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a tot...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 2007
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652823/
https://ncbi.nlm.nih.gov/pubmed/17704260
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050450
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia