Results 71 to 80 of about 7,783 (160)

Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case. [PDF]

Cureus, 2023
Alhazmi AM, Alsubaie MA, Alanazi RR.
europepmc   +1 more source

Vascular malformation rupture in a patient affected by Costello syndrome. [PDF]

BMJ Case Rep, 2022
Barbieri F, Hall IF, Elia L, Civilini E.
europepmc   +1 more source

Surgical techniques for infectious endocarditis of the mitral valve with hypertrophic cardiomyopathy in Costello syndrome. [PDF]

J Cardiol Cases, 2022
Ishida S, Mutsuga M, Fujita T, Yagami K.
europepmc   +1 more source

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome. [PDF]

Eur J Hum Genet, 2022
Lindsey-Temple S, Edwards M, Rickassel V, Nauth T, Rosenberger G.   +4 more
europepmc   +1 more source

Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient

Frontiers in Neurology
The RASopathies, collectively, are a spectrum of genetic syndromes caused by mutations in genes involved in the RAS/ mitogen-activated protein kinase (MAPK) pathway, including but not limited to PTPN11, NRAS, KRAS, HRAS, BRAF, and MAP2K1.
Margarita Dionysiou, Stavriani C. Makri, Shivani Ahlawat, Melike Guryildirim, Kristin W. Barañano, Mari L. Groves, Pedram Argani, Christine A. Pratilas   +7 more
doaj   +1 more source

Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs. [PDF]

Stem Cell Reports, 2021
Choi JB, Lee J, Kang M, Kim B, Ju Y, Do HS, Yoo HW, Lee BH, Han YM.   +8 more
europepmc   +1 more source

Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy

ESC Heart Failure
Aims This study aimed to describe the natural history and predictors of all‐cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM).
Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E. F. Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B. Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kaski   +28 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Costello syndrome [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
openaire   +2 more sources

Syndrome in question. Costello syndrome.

Anais brasileiros de dermatologia, 2015
Costello syndrome (CS) is a rare genetic disorder, first described by Costello in 1971, caused by mutations in the HRAS proto-oncogene. Clinical findings include facial dysmorphism, skin disorders, cognitive impairment, cardiac and musculoskeletal defects. There is an increased risk of malignancies in these patients, due to the proto-oncogene mutation,
Isy Lima, Peixoto, Ana Maria, Carreno, Vania Mesquita Gadelha, Prazeres, Caroline Albuquerque Rodrigues, Chirano, Gabriel Maroja, Ihara, Patricia Bandeira de Melo, Akel   +5 more
openaire   +1 more source