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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2020
Subjects:
Case Report
Online Access: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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