The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series.

Petronella OroszZita KollákÁkos Géza PethőAndrás FogarasiGyörgy ReuszKinga HadzsievTamás Szabó

Published in: Children (Basel, Switzerland) (2023)

An appropriate evaluation of the phenotype is the cornerstone of diagnosing the rare TSC2/PKD1-CGS with the help of genetic results. In addition, malignant tumors could draw attention to an infrequent large deletion.

Keyphrases

polycystic kidney disease
genome wide
copy number
working memory
case report
dna methylation
genome wide identification
gene expression
transcription factor