A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS

Diets-Jongmans syndrome, DIJOS, is a very recently described autosomal dominant condition, which is caused by heterozygous pathogenic variants in KDM3B gene and characterized by impaired intellectual development, short stature, as well as facial dysmorphism. We describe a new DIJOS patient harboring...

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Detalles Bibliográficos
Autores principales: Tabaku, Mirela, Tomori, Sonila, Cullufi, Paskal, Dervishi, Ermira, Paknia, Omid, Bauer, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9579042/
https://www.ncbi.nlm.nih.gov/pubmed/36274669
http://dx.doi.org/10.1016/j.ymgmr.2022.100927

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