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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Dades bibliogràfiques
Publicat a:Rom J Morphol Embryol
Autors principals: 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
Idioma:Inglês
Publicat: Academy of Medical Sciences, Romanian Academy Publishing House, Bucharest 2020
Matèries:
Case Report
Accés en línia: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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