Genetic Testing in Mosaicism
ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patien...
Saved in:
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-08-01
|
| Series: | JEADV Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jvc2.70073 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of transmission to the offspring. Precise diagnosis and identification of the dysregulated pathway are also the basis for therapeutic interventions. Here we address the questions why, when, and how to perform genetic testing for mosaic skin conditions. |
|---|---|
| ISSN: | 2768-6566 |