Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)–Associated Pulmonary Vascular Disease

Angiotensin II–dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

(2013) Elena M. Gallo et al.   JOURNAL OF CLINICAL INVESTIGATION

Cutis laxa: Intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism

(2013) Zsolt Urban et al.   MATRIX BIOLOGY

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

(2013) E. Giannoulatou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MAPK activation in mature cataract associated with Noonan syndrome

(2013) Noriyasu Hashida et al.   BMC Ophthalmology

Normative growth charts for individuals with Costello syndrome

(2012) Mary R. Sammon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

(2012) Emma M.M. Burkitt-Wright et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

(2012) Sybille Lorenz et al.   European Journal of Medical Genetics

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

(2012) Karen W. Gripp et al.   GENETICS IN MEDICINE

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

(2011) T. Gardeitchik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome

(2011) J. Urosevic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

(2009) Angela E. Lin et al.   PRENATAL DIAGNOSIS

Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D

(2008) Hideo Kuniba et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A case of persistent pulmonary hypertension in a newborn with Costello syndrome

(2008) Joyce OʼShea et al.   CLINICAL DYSMORPHOLOGY