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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2020
Materias:
Case Report
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

Internet

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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