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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Detalhes bibliográficos
Publicado no:Rom J Morphol Embryol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8112787/
https://ncbi.nlm.nih.gov/pubmed/33817732
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.47162/RJME.61.3.29
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