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Cornelia de Lange Syndrome: From a Disease to a Broader Spectrum

Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Genes (Basel)
Prif Awduron: Selicorni, Angelo, Mariani, Milena, Lettieri, Antonella, Massa, Valentina
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: MDPI 2021
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8307173/
https://ncbi.nlm.nih.gov/pubmed/34356091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12071075
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