A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects

Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patien...

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Detalles Bibliográficos
Autores principales: Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10302461/
https://www.ncbi.nlm.nih.gov/pubmed/37374360
http://dx.doi.org/10.3390/medicina59061156

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10302461/
https://www.ncbi.nlm.nih.gov/pubmed/37374360
http://dx.doi.org/10.3390/medicina59061156

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