Rasopathies: Experience in the Genetics Department of Garrahan Hospital

Rasopathies are phenotypically overlapping syndromes caused by variants in genes of the RAS-MAPK pathway. They include Noonan Syndrome (NS), Cardiofaciocutaneous Syndrome (CFCS), Costello Syndrome (CS), Noonan Syndrome with Multiple Lentigines (NSML), Noonan Syndrome with Anagen Hair (NSAH), among o...

وصف كامل

التفاصيل البيبلوغرافية
المؤلف الرئيسي: Huckstadt, Victoria
التنسيق: Online
اللغة:English
منشور في: Facultad de Ciencias Exactas, Químicas y Naturales 2024
الموضوعات:
الوصول للمادة أونلاين:https://www.fceqyn.unam.edu.ar/recyt/index.php/recyt/article/view/790