SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
Background: Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). Mutations of SOS1, the gene encoding a guanine nucleotide exchange f...
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Published in | Journal of medical genetics Vol. 44; no. 10; pp. 651 - 656 |
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Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
London
BMJ Publishing Group Ltd
01.10.2007
BMJ BMJ Publishing Group LTD BMJ Group |
Subjects | |
Online Access | Get full text |
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