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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Bibliografski detalji
Izdano u:Rom J Morphol Embryol
Glavni autori: Bohîlţea, Roxana Elena, Cîrstoiu, Monica Mihaela, Nedelea, Florina Mihaela, Turcan, Natalia, Georgescu, Tiberiu Augustin, Munteanu, Octavian, Baroş, Alexandru, Istrate-Ofiţeru, Anca-Maria, Berceanu, Costin
Format: Artigo
Jezik:Inglês
Izdano: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2020
Teme:
Case Report
Online pristup: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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