Xcode Life

Condition: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1

rs267607048 in SHOC2 gene and NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1

PMID 24458587 2014 Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 24458596 2014 Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 25563136 2015 Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.