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Case report of a novel phenotype in 18q deletion syndrome
The latest decades are characterized by an enormous progression in the field of human genetics. In consequences, for various phenotypic manifestations, genetic testing could identify a specific underlying cause. An estimated incidence for all types of 18q deletions is one in 55 000 births predominan...
Autores principales: | Bohîlţea, Roxana Elena, Cîrstoiu, Monica Mihaela, Nedelea, Florina Mihaela, Turcan, Natalia, Georgescu, Tiberiu Augustin, Munteanu, Octavian, Baroş, Alexandru, Istrate-Ofiţeru, Anca-Maria, Berceanu, Costin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8112787/ https://www.ncbi.nlm.nih.gov/pubmed/33817732 http://dx.doi.org/10.47162/RJME.61.3.29 |
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