2762 results
Retinoblastoma - MRI
 • Most common intra-ocular neoplasm in children.
 • Clinical Presentation: leukocoria (loss of
have a germline mutation ... by a germline mutation ... With germline mutations ... neuroradiology #pediatrics #radiology
Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in
types 1) due to mutations ... pancreatic #cysts #mri #radiology
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
A homozygous mutation ... NEJM #Wolmans #radiology
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
deficiency with MTND mutation ... Brain #Diagnosis #Radiology
Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into
defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations
Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration
Each individual mutation ... However, when these mutations
Bilateral Vestibular Schwannomas in Neurofibromatosis Type 2- ...Magnetic resonance imaging of the brain performed after the
which is caused by mutations ... NEJM #clinical #radiology
Normal Values echocardiographic ​​diastolic parameters - Velocities, Ratios and Durations

#Diagnosis #Cardiology #Diastology #Normal #Parameters #Values #Diastolic
Velocities, Ratios and Durations ... #Diagnosis #Cardiology
Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
 • Polycythemia vera → Blood JAK2 mutation screening
vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation
Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations