The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
Bibliographic Data
| ID | 15712559 |
|---|---|
| Authors | Petronella Orosz (University of Debrecen), Zita Kollák (Bethesda Children’s Hospital, 1146 Budapest, Hungary), Ákos Pethő (0000-0001-9776-9841, Semmelweis University, corresponding author), András Fogarasi (0000-0001-8397-8706, Bethesda Children’s Hospital, 1146 Budapest, Hungary), György Reusz (0000-0003-0396-043X, Semmelweis University), Kinga Hadzsiev (0000-0003-2303-1670, University of Pecs), Tamás Szabó (0000-0003-0599-0624, University of Debrecen, corresponding author) |
| Year | 2023 |
| Volume | 10 |
| Issue | 3 |
| Pages | 420-420 |
| Publication date | 2023-02-22 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children10030420 |
| PMID | 36979978 |
| OpenAlex | W4321500289 |
| Language | EN |
| Citations received | 1 |
| References cited | 23 |
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
Biology · Differential diagnosis · Disease · Genetic counseling · Genetic testing · Pathology · PKD1 · Polycystic kidney disease · TSC1 · TSC2 · Tuberous sclerosis · Genetic and Kidney Cyst Diseases · Medicine · Renal cell carcinoma treatment · Tuberous Sclerosis Complex Research · Genetics · Internal Medicine
| Citations per year | 0.5 |
|---|---|
| Citation span | 2024 - 2024 (1) |
| Highly cited | No |