Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with KRAS Variant

We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: Rodríguez, Fernando, Vallejos, Carla, Bolanos-Garcia, Víctor M., Ponce, Diana, Unanue, Nancy, Garay, Francisco, Cassorla, Fernando, Aracena, Mariana
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2018
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6234039/
https://ncbi.nlm.nih.gov/pubmed/30430033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0038-1653977
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak