PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
PMID 16733669 2006 "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."
PMID 15889278 2005 A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.
rs1553630457 in
TGFBR2 gene and
Orbital separation excessive
PMID 28344185 2017 Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
rs369634007 in
TMEM87B gene and
Orbital separation excessive
PMID 27148590 2016 Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.