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Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
Background: Cornelia de Lange Syndrome (CdLS) is a heterogeneous disorder. Diverse expression of clinical symptoms can be caused by a variety of pathogenic variants located within the sequence of different genes correlated with the cohesin complex. Methods: Sixty-nine patients with confirmed clinica...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Front Pediatr |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Frontiers Media S.A.
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6530423/ https://ncbi.nlm.nih.gov/pubmed/31157197 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00203 |
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