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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...
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| Publicado no: | Front Pediatr |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | 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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