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...
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| Format: | Article |
| Language: | English |
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Wiley
2025-08-01
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| Series: | JEADV Clinical Practice |
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| Online Access: | https://doi.org/10.1002/jvc2.70073 |
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| _version_ | 1849236390019072000 |
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| author | Cristina Has |
| author_facet | Cristina Has |
| author_sort | Cristina Has |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-2eaa235e9a954238907a39b87e726588 |
| institution | Kabale University |
| issn | 2768-6566 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | JEADV Clinical Practice |
| spelling | doaj-art-2eaa235e9a954238907a39b87e7265882025-08-20T04:02:17ZengWileyJEADV Clinical Practice2768-65662025-08-014366466810.1002/jvc2.70073Genetic Testing in MosaicismCristina Has0Department of Dermatology Medical Center—University of Freiburg Freiburg GermanyABSTRACT 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.https://doi.org/10.1002/jvc2.70073genetic testingmassive parallel sequencingmosaicismnevus |
| spellingShingle | Cristina Has Genetic Testing in Mosaicism JEADV Clinical Practice genetic testing massive parallel sequencing mosaicism nevus |
| title | Genetic Testing in Mosaicism |
| title_full | Genetic Testing in Mosaicism |
| title_fullStr | Genetic Testing in Mosaicism |
| title_full_unstemmed | Genetic Testing in Mosaicism |
| title_short | Genetic Testing in Mosaicism |
| title_sort | genetic testing in mosaicism |
| topic | genetic testing massive parallel sequencing mosaicism nevus |
| url | https://doi.org/10.1002/jvc2.70073 |
| work_keys_str_mv | AT cristinahas genetictestinginmosaicism |