Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

M, Zenker; K, Lehmann; AL, Schulz; H, Barth; D, Hansmann; R, Koenig; R, Korinthenberg; M, Kreiss-Nachtsheim; P, Meinecke; S, Morlot; S, Mundlos; AS, Quante; S, Raskin; D, Schnabel; LE, Wehner; CP, Kratz; D, Horn; K, Kutsche

doi:10.1136/jmg.2006.046300

Public

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Shared by NobleBlocks on Oct 20, 2006 • 12:00 AM UTC

Authors:

Zenker M

Lehmann K

Schulz AL

Abstract

Background Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of these conditions can be caused by germline mutations in key components of the highly conserved Ras-MAPK p...

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!